A fractional perspective on the transmission dynamics of a parasitic infection, considering the impact of both strong and weak immunity.

Infectious disease cryptosporidiosis is caused by the cryptosporidium parasite, a type of parasitic organism. It is spread through the ingestion of contaminated water, food, or fecal matter from infected animals or humans. The control becomes difficult because the parasite may remain in the environment for a long period. In this work, we constructed an epidemic model for the infection of cryptosporidiosis in a fractional framework with strong and weak immunity concepts. In our analysis, we utilize the well-known next-generation matrix technique to evaluate the reproduction number of the recommended model, indicated by [Formula: see text]. As [Formula: see text], our results show that the disease-free steady-state is locally asymptotically stable; in other cases, it becomes unstable. Our emphasis is on the dynamical behavior and the qualitative analysis of cryptosporidiosis. Moreover, the fixed point theorem of Schaefer and Banach has been utilized to investigate the existence and uniqueness of the solution. We identify suitable conditions for the Ulam-Hyers stability of the proposed model of the parasitic infection. The impact of the determinants on the sickness caused by cryptosporidiosis is highlighted by the examination of the solution pathways using a novel numerical technique. Numerical investigation is conducted on the solution pathways of the system while varying various input factors. Policymakers and health officials are informed of the crucial factors pertaining to the infection system to aid in its control.

Dual solutions of magnetized radiative flow of Casson Nanofluid over a stretching/shrinking cylinder: Stability analysis.

The enhanced thermal efficiency exhibited by Casson nanofluids offers significant practical applications across various industrial and engineering sectors. This study focuses on the mathematical investigation of the steady magnetohydrodynamic (MHD) boundary layer flow of Casson nanofluid through a stretched/shrinking cylinder, taking into account the effects of suction and thermal radiation. The governing partial differential equations (PDEs) have been subjected to a similarity transformation, resulting in a set of nonlinear ordinary differential equations (ODEs). These ODEs were solved numerically utilizing the code of bvp4c in the software of Matlab which offers high accuracy (4th order). The employed nanofluid model incorporates the effects of Brownian motion and thermophoresis. The present study illustrates the graphical depictions of the impacts of different governing parameters, namely Hartmann (M) number, curvature (γ) parameter, Brownian motion (Nb) parameter, mass suction (S) parameter, thermal radiation (Rd) parameter, and thermophoresis (Nt) parameter, on heat transfer, flow, and mass transfer characteristics. Comprehensive determination and visual presentation of the coefficient of skin friction, local Nusselt number, and local Sherwood number were conducted for a range of estimates of applied parameters. Based on our examination, it has been determined that dual similarity solutions are present within a specific range of mass suction parameters. The relationship between the Casson parameter and various fluid dynamic properties, such as skin friction coefficient, heat transfer rate, and mass transfer rates, has been found to exhibit a decreasing trend. Furthermore, the stability analysis discovered that the first solution exhibits linear stability, whereas the second solution displays linear instability. Additionally, the motivation behind this study is to enhance industrial performance through the optimization of thermal power generation systems, thereby increasing their overall efficiency.

Human anti-PSCA CAR macrophages possess potent antitumor activity against pancreatic cancer.

Due to the limitations of autologous chimeric antigen receptor (CAR)-T cells, alternative sources of cellular immunotherapy, including CAR macrophages, are emerging for solid tumors. Human induced pluripotent stem cells (iPSCs) offer an unlimited source for immune cell generation. Here, we develop human iPSC-derived CAR macrophages targeting prostate stem cell antigen (PSCA) (CAR-iMacs), which express membrane-bound interleukin (IL)-15 and truncated epidermal growth factor receptor (EGFR) for immune cell activation and a suicide switch, respectively. These allogeneic CAR-iMacs exhibit strong antitumor activity against human pancreatic solid tumors in vitro and in vivo, leading to reduced tumor burden and improved survival in a pancreatic cancer mouse model. CAR-iMacs appear safe and do not exhibit signs of cytokine release syndrome or other in vivo toxicities. We optimized the cryopreservation of CAR-iMac progenitors that remain functional upon thawing, providing an off-the-shelf, allogeneic cell product that can be developed into CAR-iMacs. Overall, our preclinical data strongly support the potential clinical translation of this human iPSC-derived platform for solid tumors, including pancreatic cancer.

Five human pathogens detected by tick surveillance in New York City parks, 2014-2015.

A total of 2,504 ticks of 5 species (Ixodes scapularis, Dermacentor variabilis, Amblyomma americanum, Haemaphysalis leporispalustris, and H. longicornis) were collected over 2 yr (2014-2015) in New York City parks. Specimens were collected via tick-dragging, identified to species, and tested for pathogens of human diseases. The causative agents of 5 human diseases (Lyme borreliosis, ehrlichiosis, babesiosis, anaplasmosis, and Rocky Mountain spotted fever) were detected in a subset of samples. Results of this surveillance effort further illustrate that risk of tick-borne disease is considerable even in parks located adjacent to densely populated areas.

Earliest records of the Asian longhorned tick (Acari: Ixodidae) in Staten Island, New York, and subsequent population establishment, with a review of its potential medical and veterinary importance in the United States.

Three Asian longhorned ticks (Haemaphysalis longicornis) were collected on Staten Island, Richmond County, New York, in 2014-2015 as part of a tick-borne disease surveillance program conducted by the New York City Department of Health and Mental Hygiene and the Defense Centers of Public Health - Aberdeen Tick-Borne Disease Laboratory. These records mark the earliest known occurrence of H. longicornis in New York State outside of quarantine areas, predating previously reported detections by several years. Robust populations of H. longicornis were collected in subsequent years at the Staten Island site where these few ticks were found, demonstrating that small infestations have the potential to proliferate quickly. Haemaphysalis longicornis is a 3-host ixodid tick native to eastern Asia but now established in the United States, as well as Australasia and several Pacific islands. Although H. longicornis has not yet been associated with human disease transmission in the United States, it warrants attention as a potential vector, as it is demonstrated to harbor various pathogens of medical and veterinary interest across its native and introduced range.

Therapeutic application of human type 2 innate lymphoid cells via induction of granzyme B-mediated tumor cell death.

The therapeutic potential for human type 2 innate lymphoid cells (ILC2s) has been underexplored. Although not observed in mouse ILC2s, we found that human ILC2s secrete granzyme B (GZMB) and directly lyse tumor cells by inducing pyroptosis and/or apoptosis, which is governed by a DNAM-1-CD112/CD155 interaction that inactivates the negative regulator FOXO1. Over time, the high surface density expression of CD155 in acute myeloid leukemia cells impairs the expression of DNAM-1 and GZMB, thus allowing for immune evasion. We describe a reliable platform capable of up to 2,000-fold expansion of human ILC2s within 4 weeks, whose molecular and cellular ILC2 profiles were validated by single-cell RNA sequencing. In both leukemia and solid tumor models, exogenously administered expanded human ILC2s show significant antitumor effects in vivo. Collectively, we demonstrate previously unreported properties of human ILC2s and identify this innate immune cell subset as a member of the cytolytic immune effector cell family.

Entropy generation in magneto couple stress bionanofluid flow containing gyrotactic microorganisms towards a stagnation point on a stretching/shrinking sheet.

The study focuses on the behavior of an electrically conducting non-Newtonian fluid with couple stress properties, using water-based bionanofluid. The fluid is analyzed as it flows across a porous stretching/shrinking sheet within its own plane. This Study also explores the Bejan Number and Entropy Generation. To facilitate this investigation, the governing nonlinear partial differential equations undergo a transformation, wherein they are converted into nonlinear ordinary differential equations through a suitable similarity transformation. An ideal strategy has been employed to achieve the desired results from the modeled challenge. The Homotopy Analysis Method is applied to determine the solution of the system of differential equations. The convergence of the applied method and their comparison with the numerical method are described through graphs and tables. The main features of the different profiles are briefly described. Graphs are used to analyze the impact of the Bejan number, concentration, temperature, velocity profile, and entropy production rate. Tables present the characteristics of skin friction, Nusselt, and Sherwood numbers for various limitations. The stretching and ambient fluid velocities should fluctuate linearly as the distance from the stagnation point increases. A rise in the magnetic and porosity parameters is accompanied by an increase in the velocity profile. While the velocity profile falls off as a Couple of fluid parameters are increased. The phenomenon of temperature boost is observed to be positively correlated with the increase in Brownian motion parameter while exhibiting no significant dependence on other parameters such as Brinkman number, Prandtl number Lewis number and Thermophoresis parameter. Entropy generation increases with the Brinkman number while decreasing with the radiation parameter and diffusion parameter as is plainly demonstrated.

A fractional modeling approach for the transmission dynamics of measles with double-dose vaccination.

Measles, a member of the Paramyxoviridae family and the Morbillivirus genus, is an infectious disease caused by the measles virus that is extremely contagious and can be prevented through vaccination. When a person with the measles coughs or sneezes, the virus is disseminated by respiratory droplets. Normally, the appearance of measles symptoms takes 10-14 d following viral exposure. Conjunctivitis, a high temperature, a cough, a runny nose, and a distinctive rash are some of the symptoms. Despite the measles vaccination being available, it is still widespread worldwide. To eradicate measles, the Reproduction Number (i.e. R0<1) must remain less than unity. This study examines a SEIVR compartmental model in the caputo sense using a double dose of vaccine to simulate the measles outbreak. The reproduction number R0 and model properties are both thoroughly examined. Both the local and global stabilities of the proposed model are determined for R0 less and greater than 1. To achieve the model's global stability, the Lyapunov function is used while the existence and uniqueness of the proposed model are demonstrated In addition to the calculated and fitted biological parameters, the forward sensitivity indices for R0 are also obtained. Simulations of the proposed fractional order (FO) caputo model are performed in order to analyse their graphical representations and the significance of FO derivatives to illustrate how our theoretical findings have an impact. The graphical results show that the measles outbreak is reduced by increasing vaccine dosage rates.

Comparative analysis of the intestinal microbiome in Rattus norvegicus from different geographies.

Rat species Rattus norvegicus, also known as the brown street rat, is the most abundant mammal after humans in urban areas, where they co-exist with humans and domestic animals. The reservoir role of R. norvegicus of zoonotic pathogens in cities among rodent-borne diseases that could endanger the lives of humans and other mammals. Therefore, understanding the normal microbiome of R. norvegicus is crucial for understanding and preventing zoonotic pathogen transmission to humans and animals. We investigated the intestinal microbiome of free-living R. norvegicus collected from the Ruili, Nujiang, and Lianhe regions of Yunnan, China, using 16S rRNA gene sequence analysis. Proteobacteria, followed by Firmicutes, and Bacteroidetes were abundant in the intestines of R. norvegicus; however, bacterial compositions varied significantly between samples from different locations. Following a similar trend, Gammaproteobacteria, Bacilli, and Clostridia were among the top bacterial classes in most intestinal samples. The situation differed slightly for the Lianhe and Nujiang samples, although Phyla Bacteroidota and Spirochaetota were most prevalent. The Alpha diversity, Chao1, and Simpson indexes revealed microbial richness among the R. norvegicus samples. A slight variation was observed among the samples collected from Ruili, Nujiang, and Lianhe. At species levels, several opportunistic and zoonotic bacterial pathogens, including Lactococcus garvieae, Uruburuella suis, Bartonella australis, Clostridium perfringens, Streptococcus azizii, Vibrio vulnificus, etc., were revealed in the R. norvegicus intestines, implying the need for a regular survey to monitor and control rodent populations. In conclusion, we explored diverse microbial communities in R. norvegicus intestines captured from different regions. Further, we identified several opportunistic and potential bacterial pathogens, which still need to be tested for their underlying pathogenesis. The findings of our current study should be considered a warning to the health authorities to implement rat control and surveillance strategies globally.

Analysis of the dynamics of a vector-borne infection with the effect of imperfect vaccination from a fractional perspective.

The burden of vector-borne infections is significant, particularly in low- and middle-income countries where vector populations are high and healthcare infrastructure may be inadequate. Further, studies are required to investigate the key factors of vector-borne infections to provide effective control measure. This study focuses on formulating a mathematical framework to characterize the spread of chikungunya infection in the presence of vaccines and treatments. The research is primarily dedicated to descriptive study and comprehension of dynamic behaviour of chikungunya dynamics. We use Banach's and Schaefer's fixed point theorems to investigate the existence and uniqueness of the suggested chikungunya framework resolution. Additionally, we confirm the Ulam-Hyers stability of the chikungunya system. To assess the impact of various parameters on the dynamics of chikungunya, we examine solution pathways using the Laplace-Adomian method of disintegration. Specifically, to visualise the impacts of fractional order, vaccination, bite rate and treatment computer algorithms are employed on the infection level of chikungunya. Our research identified the framework's essential input settings for managing chikungunya infection. Notably, the intensity of chikungunya infection can be reduced by lowering mosquito bite rates in the affected area. On the other hand, vaccination, memory index or fractional order, and treatment could be used as efficient controlling variables.

Factors associated with full vaccination and zero vaccine dose in children aged 12-59 months in 6 health districts of Cameroon.

BACKGROUND: Routine immunisation coverage in Cameroon is still below the target of the national Expanded Programme on Immunisation (EPI), with only 42% of children fully immunised according to Demographic and Health Survey (DHS) report in 2018. The objective of this study was to evaluate factors associated with full immunisation and zero-dose in Cameroonian children. METHODS: A two-stage cross-sectional cluster survey was conducted in Yaoundé in November 2021, targeting children aged 12-59 months. The clusters were chosen with probability proportionate to population size (PPS), and households selected by restricted sampling technique. Data were collected from the vaccination card of the child or from parents' recall, if the card was not available, using electronic forms with tablets. Using R (version 4.1.0.), the proportion of fully immunised children was calculated. The household wealth index was described using principal component analysis, and factors associated with full immunisation assessed with multiple logistics regression. The threshold of statistical significance was set at 5%. FINDINGS: A total, 273 children aged 12-59 months enrolled; 37% of participants were fully immunised, and 16% had never received any vaccine. Mother's level of education: Primary (OR = 3.59, p = 0.0200), high school (OR = 3.68, p = 0.0400*), and higher education (OR = 8.25, p = 0.0018), and sharing household with biological father (OR = 2.11, p = 0.0305) were significantly associated with full vaccination. Living in a richer (3rd-5th wealth quintiles) household (OR = 0.25, p = 0.0053); mother's education: Primary (OR = 0.07, p = 0.0271) and Higher education (OR = 0.10, p = 0.0419), living with the mother (OR = 0.05, p = < 0.0001) and living with the father (OR = 0.22, p = 0.0253) had significant negative association with zero-dose in children. CONCLUSION: The proportion of fully vaccinated children in Yaounde is lower than the national average. Children from poor homes and those borne by uneducated mother have higher odds of not being vaccinated. Immunisation programmes in Yaounde need to be stepped up to improve coverage. Equally, there is a need to reconsider how the poor can the better reached with immunisation services.

Modeling and analysis of the transmission of avian spirochetosis with non-singular and non-local kernel.

An acute bacterial infection called avian spirochetosis is spread by ticks to a variety of birds. Clinical symptoms can vary greatly and are frequently non-specific. To diagnose a condition, the infectious spirochete must be detected. Here, we structure an epidemic model for the transmission of avian spirochetosis to visualize the interaction between tick and bird populations. The recommended dynamics of avian spirochetosis is illustrated with the help of fractional framework. We inspected the steady-states of the system of the avian spirochetosis for the stability analysis. The next-generation technique is used to evaluate the model's reproduction parameter R0. The infection-free and endemic steady-state of avian spirochetosis were shown to be locally asymptotically stable under the specified conditions. Through mathematical skills, the positivity of solutions is determined. Additionally, evidence supporting the existence and uniqueness of the avian spirochetosis framework solution has been shown. We conduct modified simulations of the suggested avian spirochetosis system with different input factors to study the complex phenomena of avian spirochetosis under the effect of numerous input parameters. Our outcomes illustrate the significance and plausibility of fractional parameter, and they also suggest that this input parameter may adequately account for these kinds of observations.

Mathematical study of the dynamics of lymphatic filariasis infection via fractional-calculus.

The infection of lymphatic filariasis (LF) is the primary cause of poverty and disability in individuals living with the disease. Many organizations globally are working toward mitigating the disease's impact and enhancing the quality of life of the affected patients. It is paramount to inspect the transmission pattern of this infection to provide effective interventions for its prevention and control. Here, we formulate an epidemic model for the progression process of LF with acute and chronic infection in the fractional framework. The basic concept of the novel Atangana-Baleanu operator is presented for the analysis of suggested system. We determine the basic reproduction number of the system via the approach of next-generation matrix and investigate the equilibria of the system for stability analysis. We have shown the impact of input factors on the outcomes of reproduction parameter with the help of partial rank correlation coefficient approach and visualize the most critical factors. To conceptualize the time series analysis of the suggested dynamics, we propose utilizing a numerical approach. The solution pathways of the system are illustrated to demonstrate how different settings affect the system. We demonstrate the dynamics of the infection numerically to educate the policy makers and health authorities about the mechanisms necessary for management and control.

Intelligent computing with Levenberg-Marquardt artificial neural network for Carbon nanotubes-water between stretchable rotating disks.

Hybrid Nano fluid has emerged to be an important field of study due to its better thermal performance compared to other Nano fluids. The problem of carbon nanotubes rotating between two stretchable discs while suspended in water is investigated in this research. Due to numerous uses of this problem, such as metal mining, drawing plastic films, and cooling continuous filaments, this problem is essential to industry. Considerations here include suction/injection, heat radiation, and the Darcy-Forchheimer scheme with convective boundary conditions. The partial differential equations are reduced to ordinary differential equations by using appropriate transformation. To examine the approximate solution validation, training and testing procedures are interpreted and the performance is verified through error histogram and mean square error results. To describe the behavior of flow quantities, several tabular and graphical representations of a variety of physical characteristics of importance are presented and discussed in detail. The basic aim of this research is to examine the behaviour of carbon nanotubes (nanoparticles) between stretchable disks while considering the heat generation/absorption parameter by using the Levenberg-Marquardt technique of artificial neural network. Heat transfer rate is accelerated by a decrease in velocity and temperature and an increase in the nanoparticle volume fraction parameter which is a significant finding of the current study.

Computational analysis of radiative engine oil-based Prandtl-Eyring hybrid nanofluid flow with variable heat transfer using the Cattaneo-Christov heat flux model.

In the present analysis, we study the energy transference through engine oil-based Prandtl-Eyring nanofluid flow through a heated stretching surface. The nanofluid is prepared by adding copper (Cu) and titanium dioxide (TiO2) nanoparticles (NPs) to the base fluid engine oil. The flow mechanism and thermal transmission are observed by exposing the nanofluid flow through the heated slippery surface. The influences of permeable surface, radiative flux and heat absorption/generation are also elaborated in this study. The flow of nanofluids has been designed using a PDEs system, which are then transformed into a set of ODEs via resemblance modification. The numerical technique "shooting method" is used to solve the acquired nonlinear set of non - dimensional ODEs. The results are physically exemplified through tables and plots. It has been detected that the accumulation of nanomaterials in the engine oil, reduces the skin friction while accelerating the energy transfer rate. The velocity field significantly decelerates with the encouragement of the porosity factor, and volume fraction of NPs. However, the temperature profile significantly escalates with the encouragement of the porosity factor, and volume fraction of NPs.

Magnetized mixed convection hybrid nanofluid with effect of heat generation/absorption and velocity slip condition.

Through a vertically shrinking sheet, a two-dimensional magnetic nanofluid is numerically analyzed for convection, heat generation and absorption, and the slip velocity effect. In this research, Al2O3-Cu/water composite nanofluid is studied, where water is deemed the base liquid and copper (Cu) and alumina (Al2O3) are the solid nanoparticles. Modern composite nanofluids improve heat transfer efficiency. Using the Tiwari-Das model, the current study examines the effects of the solid volume fraction of copper, heat generation/absorption, MHD, mixed convection, and velocity slip parameters on velocity and temperature distributions. Introducing exponential similarity variables converts nonlinear partial differential equations (PDEs) to ordinary differential equations (ODEs). MATLAB bvp4c solver is used to solve ODEs. Results showed dual solutions for suction with 0%-10% copper nanoparticles and 1%-500% heat generation/absorption. As copper (Cu) solid volume percentage increases from 0% to 10%, reduced skin friction f ″ ( 0 ) boosts in the first solution but falls in the second. When Cu is added to both solutions, heat transport - θ ' ( 0 ) decreases. As heat generation/absorption increases 1%-500%, - θ ' ( 0 ) decreases in both solutions. In conclusion, solution dichotomy exists when suction parameter S ≥ S c i in assisting flow case, while no fluid flow is possible when S < S c i .

Entropy optimization and heat flux analysis of Maxwell nanofluid configurated by an exponentially stretching surface with velocity slip.

Hybrid nanofluids are extremely important in field of engineering and technology due to their higher heat transportation performance resulting in increased heat transfer rates. In the presence of thermal heat flux, the effect of a slanted MHD with velocity slip condition on a CNTs hybrid nanocomposite across a gradually extending surface is investigated. In present analysis, Maxwell nanofluid is embedded with SWCNT and MWCNT (single and multiple wall carbon nanotubes) nanoparticles. The nanomaterials transformation framework is obtained by employing Xue modified theoretical model. Various factors like dissipation, thermal radiations and Ohmic heat influences are adequately implemented in heat formulation. The physical features of thermodynamical mechanism of irreversibility are explored. The thermodynamics second law is used to produce the entropy optimization formulation. In addition, entropy is utilized to assess the energy aspects of a heat exchanger. Utilizing appropriate parameters, the model nonlinear PDEs are transformed to ODEs. The HAM technique is used to compute the solution of nonlinear ODEs. For both types of CNTs, the variations of entropy rate, Bejan number, velocity and temperature field versus key technical parameters is analyzed. The Nu and Cf computational result for both CNTs are examined in tabulated and chart form. Velocity is inversely proportional to magnetic and solid volume nanoparticle parameters. The Br and Rd accelerates NG and Be for both nanocomposites. Additionally, a comparison of the HAM result and the numerical result is validated.

Mathematical modeling of corona virus (COVID-19) and stability analysis.

In this paper, the mathematical modeling of the novel corona virus (COVID-19) is considered. A brief relationship between the unknown hosts and bats is described. Then the interaction among the seafood market and peoples is studied. After that, the proposed model is reduced by assuming that the seafood market has an adequate source of infection that is capable of spreading infection among the people. The reproductive number is calculated and it is proved that the proposed model is locally asymptotically stable when the reproductive number is less than unity. Then, the stability results of the endemic equilibria are also discussed. To understand the complex dynamical behavior, fractal-fractional derivative is used. Therefore, the proposed model is then converted to fractal-fractional order model in Atangana-Baleanu (AB) derivative and solved numerically by using two different techniques. For numerical simulation Adam-Bash Forth method based on piece-wise Lagrangian interpolation is used. The infection cases for Jan-21, 2020, till Jan-28, 2020 are considered. Then graphical consequences are compared with real reported data of Wuhan city to demonstrate the efficiency of the method proposed by us.

Modeling the transmission phenomena of water-borne disease with non-singular and non-local kernel.

Drinking or recreating water that has been polluted with disease-causing organisms or pathogens is what causes waterborne infections. It should be noted that many water-borne infections can also transmit from person to person, by contact with animals or their surroundings, or by ingesting tainted food or beverages. Schistosomiasis is a water-borne infection found in different areas of the globe. Mostly people with this viral infection live in Africa with limited resources and medications. Therefore, investigation of this infection is significant to reduce its economic burden on the society. We formulated a novel epidemic model for schistosomiasis water-borne infection with the help of the Atangana-Baleanu derivative. The rudimentary theory of fractional-calculus has been presented for the analysis of our system. We start by looking at the model solution's non-negativity and uniqueness. The basic reproduction number and equilibria of the hypothesized water-borne infection model are next evaluated. Local stability of the infection-free steady-state has been established through Jacobian matrix method for R0<1. In addition, the suggested model's solution is calculated using an iterative technique. Finally, we give numerical simulations for various input values to illustrate the impact of memory index and other input factors of the system. Our findings showed the influence of input parameters on the dynamical behaviour of the schistosomiasis infection. The results demonstrate the importance and persuasive behaviour of fractional order, and reveal that fractional memory effects in the model seem to be a good fit for this type of findings.

Genotypic Characterization of a Chinese Family with Osteogenesis Imperfecta and Generation of Disease-Specific Induced Pluripotent Stem Cells.

BACKGROUND: Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by recurring bone fractures. Some OI patients have other clinical manifestations such as growth retardation, dental abnormalities, blue sclera, and hearing loss. The relationship between the phenotype and genotype of OI is indistinct, and there is no cure for OI. Therefore, an appropriate disease model is urgently needed to understand the pathophysiology of OI. Induced pluripotent stem cells (iPSCs) are capable of developing into three germ layers and have the same genetic background as the donor cells they were derived from; thus, they are an appropriate disease model. METHODS: Blood samples collected from the proband and her affected children and one unaffected child were used forgenotyping by whole genome sequencing. A patient-specific iPSC line and a healthy donor iPSC line were generated by reprogramming peripheral blood mononuclear cells with episomal plasmids containing seven transcription factors, namely, OCT4, SOX2, NANOG, LIN28, cMYC, KLF4, and SV40LT. RESULTS: The proband and her two affected children were homozygous for a mutation in collagen type I alpha 1 exon 10, c.725G>T, predicting a p.G242V substitution. A patient-specific iPSC line and a healthy donor iPSC line were generated and characterized in terms of their human embryonic stem cell-like morphology, expression of pluripotency markers, and the ability to differentiate into cells of three germ layers. CONCLUSIONS: Here, we report the phenotyping and iPSC disease modeling of an OI family. The detailed phenotyping of the OI family and establishment of iPSCs from an OI patient and healthy family member will provide a powerful tool to evaluate the pathophysiology of OI and develop targeted therapies.