PD-1/PD-L1 axis is involved in the interaction between microglial polarization and glioma.

The tumor microenvironment plays a vital role in glioblastoma growth and invasion. PD-1 and PD-L1 modulate the immunity in the brain tumor microenvironment. However, the underlying mechanisms remain unclear. In the present study, in vivo and in vitro experiments were conducted to reveal the effects of PD-1/PD-L1 on the crosstalk between microglia and glioma. Results showed that glioma cells secreted PD-L1 to the peritumoral areas, particularly microglia containing highly expressed PD-1. In the early stages of glioma, microglia mainly polarized into the pro-inflammatory subtype (M1). Subsequently, the secreted PD-L1 accumulated and bound to PD-1 on microglia, facilitating their polarization toward the microglial anti-inflammatory (M2) subtype primarily via the STAT3 signaling pathway. The role of PD-1/PD-L1 in M2 polarization of microglia was partially due to PD-1/PD-L1 depletion or application of BMS-1166, a novel inhibitor of PD-1/PD-L1. Consistently, co-culturing with microglia promoted glioma cell growth and invasion, and blocking PD-1/PD-L1 significantly suppressed these processes. Our findings reveal that the PD-1/PD-L1 axis engages in the microglial M2 polarization in the glioma microenvironment and promotes tumor growth and invasion.

The mechanisms of exercise improving cardiovascular function by stimulating Piezo1 and TRP ion channels: a systemic review.

Mechanosensitive ion channels are widely distributed in the heart, lung, bladder and other tissues, and plays an important role in exercise-induced cardiovascular function promotion. By reviewing the PubMed databases, the results were summarized using the terms "Exercise/Sport", "Piezo1", "Transient receptor potential (TRP)" and "Cardiovascular" as the keywords, 124-related papers screened were sorted and reviewed. The results showed that: (1) Piezo1 and TRP channels play an important role in regulating blood pressure and the development of cardiovascular diseases such as atherosclerosis, myocardial infarction, and cardiac fibrosis; (2) Exercise promotes cardiac health, inhibits the development of pathological heart to heart failure, regulating the changes in the characterization of Piezo1 and TRP channels; (3) Piezo1 activates downstream signaling pathways with very broad pathways, such as AKT/eNOS, NF-κB, p38MAPK and HIPPO-YAP signaling pathways. Piezo1 and Irisin regulate nuclear localization of YAP and are hypothesized to act synergistically to regulate tissue mechanical properties of the cardiovascular system and (4) The cardioprotective effects of exercise through the TRP family are mostly accomplished through Ca2+ and involve many signaling pathways. TRP channels exert their important cardioprotective effects by reducing the TRPC3-Nox2 complex and mediating Irisin-induced Ca2+ influx through TRPV4. It is proposed that exercise stimulates the mechanosensitive cation channel Piezo1 and TRP channels, which exerts cardioprotective effects. The activation of Piezo1 and TRP channels and their downstream targets to exert cardioprotective function by exercise may provide a theoretical basis for the prevention of cardiovascular diseases and the rehabilitation of clinical patients.

Effects of silencing hsa_circ_0015326 on proliferation, migration, invasion, and apoptosis of epithelial ovarian cancer cells.

Although the treatment of ovarian cancer has made great progress, there are still many patients who are not timely detected and given targeted therapy due to unknown pathogenesis. Recent studies have found that hsa_circ_0015326 is upregulated in ovarian cancer and is involved in the proliferation, invasion, and migration of ovarian cancer cells. However, whether hsa_circ_0015326 can be used as a new target of ovarian cancer needs further investigation. Therefore, the effect of hsa_circ_0015326 on epithelial ovarian cancer was investigated in this study. At first, si-hsa_circ_0015326 lentivirus was transfected into epithelial ovarian cancer cells. Then real-time fluorescence quantitative PCR (qRT-PCR) was used to detect hsa_circ_0015326 level. The proliferation of ovarian cancer cells was detected by CCK-8 assay. The horizontal and vertical migration abilities of the cells were detected by wound-healing assay and Transwell assay, respectively. Transwell assay was also used to determine the invasion rate. As for the apoptosis rate, it was assessed by flow cytometry. As a result, the expression level of hsa_circ_0015326 in A2780 and SKOV3 was found to be higher than that in IOSE-80. However, after transfecting si-hsa_circ_0015326 and si-NC into the cells, the proliferation, migration, and invasion abilities of A2780 and SKOV3 cells in the si-hsa_circ_0015326 group were significantly reduced in comparison to those in the si-NC and mock groups, while their apoptosis rates were elevated. Collectively, silencing hsa_circ_0015326 bears the capability of inhibiting the proliferation, migration, and invasion of ovarian cancer cells while increasing apoptosis rate. It can be concluded that hsa_circ_0015326 promotes the malignant biological activities of epithelial ovarian cancer cells.

Changes in mental health levels among Chinese athletes from 1995 to 2023.

Objective: In recent years, with the increasing intensity of sports competition and social pressure, the issue of mental health among athletes have gradually attracted attention. Understanding the changing trends of athletes' mental health is of great significance for formulating effective intervention measures and safeguarding the mental health of athletes. Methods: A total of 306 articles were accumulated from September to November 2023 by selecting literature from databases that measured the mental health of Chinese athletes using the Symptom Checklist-90 (SCL-90). Based on the screening criteria, 28 articles (N = 4,227) were finally included. A cross-sectional historical meta-analysis of these 28 studies using the SCL-90 between 1995 and 2023 was conducted. Based on cross-sectional historical meta-analysis methods, specific statistical methods, such as correlation and regression analyses, were used to examine trends over time in the scores of the nine SCL-90 factors measured by the athletes in the studies, as well as athlete type and gender differences. Results: (1) Athletes' scores on the depression, hostility, phobic anxiety, and paranoid ideation factors gradually increased with the change of era, and the explanation rate of the variation of each factor by era ranged from 18.8 to 27.2%; (2) During the period from 1995 to 2023, the mental health of athletes in China gradually deteriorated on the factors of depression, hostility, and phobic anxiety, the rate of change was rapid, with a medium to large magnitude (0.28-0.42); (3) The scores of female athletes on the depression and psychoticism factors scores showed a significant upward trend, while male mental health scores for each factor did not improve significantly over the years; (4) College athletes' scores on the depression, anxiety, hostility, phobic anxiety, paranoid ideation, and psychoticism factors showed an upward trend as the years changed. Conclusion: Chinese athletes' mental health has been on a downward trend for the past 28 years, which needs to be a cause for concern.

Asymmetric impact of climatic parameters on hemorrhagic fever with renal syndrome in Shandong using a nonlinear autoregressive distributed lag model.

Hemorrhagic fever with renal syndrome (HFRS) poses a major threat in Shandong. This study aimed to investigate the long- and short-term asymmetric effects of meteorological factors on HFRS and establish an early forecasting system using autoregressive distributed lag (ARDL) and nonlinear ARDL (NARDL) models. Between 2004 and 2019, HFRS exhibited a declining trend (average annual percentage change = - 9.568%, 95% CI - 16.165 to - 2.451%) with a bimodal seasonality. A long-term asymmetric influence of aggregate precipitation (AP) (Wald long-run asymmetry [WLR] = - 2.697, P = 0.008) and aggregate sunshine hours (ASH) (WLR = 2.561, P = 0.011) on HFRS was observed. Additionally, a short-term asymmetric impact of AP (Wald short-run symmetry [WSR] = - 2.419, P = 0.017), ASH (WSR = 2.075, P = 0.04), mean wind velocity (MWV) (WSR = - 4.594, P < 0.001), and mean relative humidity (MRH) (WSR = - 2.515, P = 0.013) on HFRS was identified. Also, HFRS demonstrated notable variations in response to positive and negative changes in ∆MRH(-), ∆AP(+), ∆MWV(+), and ∆ASH(-) at 0-2 month delays over the short term. In terms of forecasting, the NARDL model demonstrated lower error rates compared to ARDL. Meteorological parameters have substantial long- and short-term asymmetric and/or symmetric impacts on HFRS. Merging NARDL model with meteorological factors can enhance early warning systems and support proactive measures to mitigate the disease's impact.

Sulfation of chondroitin and bile acids converges to antagonize Wnt/ß-catenin signaling and inhibit APC deficiency-induced gut tumorigenesis.

Sulfation is a crucial and prevalent conjugation reaction involved in cellular processes and mammalian physiology. 3'-Phosphoadenosine 5'-phosphosulfate (PAPS) synthase 2 (PAPSS2) is the primary enzyme to generate the universal sulfonate donor PAPS. The involvement of PAPSS2-mediated sulfation in adenomatous polyposis coli (APC) mutation-promoted colonic carcinogenesis has not been reported. Here, we showed that the expression of PAPSS2 was decreased in human colon tumors along with cancer stages, and the lower expression of PAPSS2 was correlated with poor prognosis in advanced colon cancer. Gut epithelial-specific heterozygous Apc deficient and Papss2-knockout (ApcΔgut-HetPapss2Δgut) mice were created, and the phenotypes were compared to the spontaneous intestinal tumorigenesis of ApcΔgut-Het mice. ApcΔgut-HetPapss2Δgut mice were more sensitive to gut tumorigenesis, which was mechanistically accounted for by the activation of Wnt/ß-catenin signaling pathway due to the suppression of chondroitin sulfation and inhibition of the farnesoid X receptor (FXR)-transducin-like enhancer of split 3 (TLE3) gene regulatory axis. Chondroitin sulfate supplementation in ApcΔgut-HetPapss2Δgut mice alleviated intestinal tumorigenesis. In summary, we have uncovered the protective role of PAPSS2-mediated chondroitin sulfation and bile acids-FXR-TLE3 activation in the prevention of gut carcinogenesis via the antagonization of Wnt/ß-catenin signaling. Chondroitin sulfate may be explored as a therapeutic agent for Papss2 deficiency-associated colonic carcinogenesis.

Isolating Antipathogenic Fungal Coumarins from Coriaria nepalensis and Determining Their Primary Mechanism In Vitro.

Through bioassay-guided isolation, eight undescribed coumarins (1-8), along with six reported coumarins (9-14), were obtained from Coriaria nepalensis. The new structures were determined by using IR, UV, NMR, HRESIMS, and ECD calculations. The results of the biological activity assays showed that compound 9 exhibited broad spectrum antifungal activities against all tested fungi in vitro and a significant inhibitory effect on Phytophthora nicotianae with an EC50 value of 3.00 µg/mL. Notably, compound 9 demonstrated greater curative and protective effects against tobacco balack shank than those of osthol in vivo. Thus, 9 was structurally modified to obtain new promising antifungal agents, and the novel derivatives (17b, 17j, and 17k) exhibited better effects on Sclerotinia sclerotiorum than did lead compound 9. Preliminary mechanistic exploration illustrated that 9 could enhance cell membrane permeability, destroy the morphology and ultrastructure of cells, and reduce the exopolysaccharide content of P. nicotianae mycelia. Furthermore, the cytotoxicity results revealed that compound 9 exhibited relatively low cytotoxicity against HEK293 cell lines with an inhibition rate of 33.54% at 30 µg/mL. This research is promising for the discovery of new fungicides from natural coumarins with satisfactory ecological compatibility.

Ceftriaxone-Resistant Gonorrhea - China, 2022.

Gonorrhea is a widespread sexually transmitted infection; in 2022, China reported 96,313 cases of gonorrhea, making it the fourth most common notifiable infectious disease in the country after viral hepatitis, pulmonary tuberculosis, and syphilis. The rise in prevalence in antimicrobial-resistant strains, particularly the international spread of ceftriaxone-resistant clones, poses a formidable challenge to gonorrhea control. The China Gonococcal Resistance Surveillance Program (China-GRSP), established in 1987 and covering 19 of 34 provincial-level administrative units, continuously monitors gonococcal antimicrobial resistance. In 2022, 13 China-GRSP sentinel sites collected 2,804 gonococcal isolates, representing 2.9% of all cases reported in China, and 4.1% of cases reported in the 13 participating provinces. The prevalence of Neisseria gonorrhoeae resistance to ceftriaxone was 8.1%, approximately three times the 2017 rate of 2.9%; five provinces reported >10% ceftriaxone resistance. Resistance prevalences to cefixime, azithromycin, tetracycline, penicillin, and ciprofloxacin were 16.0%, 16.9%, 77.1%, 77.8%, and 97.6%, respectively. Only one case of spectinomycin resistance was reported. These data highlight a substantial increase in ceftriaxone resistance from 2017 to 2022. Effective diagnosis and treatment and appropriate management of sex partners are essential to protect the health of infected persons and prevent ongoing transmission of gonorrhea, including transmission of resistant strains. Identifying reasons for the spread of ceftriaxone-resistant N. gonorrhoeae in China could guide strategies, such as antibiotic stewardship, to mitigate the rising resistance rate and curb the spread of resistant strains.

Mapping multi-omics characteristics related to short-term PM2.5 trajectory and their impact on type 2 diabetes in middle-aged and elderly adults in Southern China.

The relationship between PM2.5 and metabolic diseases, including type 2 diabetes (T2D), has become increasingly prominent, but the molecular mechanism needs to be further clarified. To help understand the mechanistic association between PM2.5 exposure and human health, we investigated short-term PM2.5 exposure trajectory-related multi-omics characteristics from stool metagenome and metabolome and serum proteome and metabolome in a cohort of 3267 participants (age: 64.4 ± 5.8 years) living in Southern China. And then integrate these features to examine their relationship with T2D. We observed significant differences in overall structure in each omics and 193 individual biomarkers between the high- and low-PM2.5 groups. PM2.5-related features included the disturbance of microbes (carbohydrate metabolism-associated Bacteroides thetaiotaomicron), gut metabolites of amino acids and carbohydrates, serum biomarkers related to lipid metabolism and reducing n-3 fatty acids. The patterns of overall network relationships among the biomarkers differed between T2D and normal participants. The subnetwork membership centered on the hub nodes (fecal rhamnose and glycylproline, serum hippuric acid, and protein TB182) related to high-PM2.5, which well predicted higher T2D prevalence and incidence and a higher level of fasting blood glucose, HbA1C, insulin, and HOMA-IR. Our findings underline crucial PM2.5-related multi-omics biomarkers linking PM2.5 exposure and T2D in humans.

Big Five personality and mind wandering in athletes: mediating role of trait anxiety.

Objective: Mind wandering is a common phenomenon among athletes during training and competition, and can lead to poor performance. We attempt to clarify which personality type is more prone to mind wandering and the role of trait anxiety between them. Methods: Six hundred and eighty-one athletes participated in this cross sectional study. Participants completed the Athlete Mind Wandering Scale, The Chinese adjectives scale of Big-Five factor personality short scale version and Pre-Competition Emotion Scale-Trait questionnaires. The survey data was tested for common method biases, Pearson correlation analysis, and structural equation model by SPSS 25.0 and Mplus 7.0. Results: Common method biases can be accepted in this study. (1) Athletes' neuroticism was significantly and positively correlated with trait anxiety and mind wandering, respectively, athletes' extraversion, agreeableness, conscientiousness, and openness were significantly and negatively correlated with trait anxiety and mind wandering respectively; the athletes' trait anxiety was significantly and positively correlated with mind wandering; (2) By constructing mediating models, the direct effects of athletes' extraversion, agreeableness, conscientiousness, neuroticism, and openness on mind wandering were insignificant. The mediating effect of athletes' trait anxiety between the five personalities and mind wandering was significant. Conclusion: Trait anxiety in athletes plays a fully mediating role between the relationship of personality and mind wandering. Athletes' extraversion, agreeableness, conscientiousness, neuroticism, and openness can all have an impact on mind wandering through the mediating role of trait anxiety. Athletes can use the mediating role of trait anxiety to intervene the frequency of mind wandering.

Brief Mindfulness Training Mitigates College Students' Mobile Phone Addiction: The Mediating Effect of the Sense of Meaning in Life.

Objective: To explore the impact of brief mindfulness training on college students' mobile phone addiction and the mediating effect of the sense of meaning in life between them. Methods: This study has employed the mixed experimental design of 2 (experimental conditions) × 2 (time points), randomly assigned 44 college students into a mindfulness training group and a control group (22 college students in each group), and selected the Freiburg Mindfulness Inventory (FMI), Mobile Phone Addiction Tendency Scale (MPATS), and Chinese Meaning in Life Questionnaire (C-MLQ) to conduct separate tests before and after mindfulness training. Results: The results show that: (1) in the pretest, the differences between the mindfulness training group and the control group in the level of mindfulness, the level of mobile phone addiction, and the sense of meaning in life are not statistically significant; (2) in the posttest, compared with those of the control group, both the FMI score (p=0.013) and the C-MLQ score (p<0.001) of the mindfulness training group improve significantly, while the MPATS score (p=0.008) of the mindfulness training group declines significantly; and (3) the Bootstrap analysis of the mediating effect shows that after the change in C-MLQ (95% CI [0.537, 11.630]) enters the equation, the direct effect of mindfulness training is not significant (95% CI [-3.254, 5.861]). Conclusion: The results of this study reveal the impact and mechanism of brief mindfulness training on college students' mobile phone addiction, and provide an empirical basis for intervening on mobile phone addiction.

Evaluating the long-term impact of COVID-19-associated public health interventions on zoonotic and vector-borne diseases in China: an interrupted time series analysis.

BACKGROUND: The long-term impact of COVID-19-associated public health interventions on zoonotic and vector-borne infectious diseases (ZVBs) remains uncertain. This study sought to examine the changes in ZVBs in China during the COVID-19 pandemic and predict their future trends. METHODS: Monthly incidents of seven ZVBs (Hemorrhagic fever with renal syndrome [HFRS], Rabies, Dengue fever [DF], Human brucellosis [HB], Leptospirosis, Malaria, and Schistosomiasis) were gathered from January 2004 to July 2023. An autoregressive fractionally integrated moving average (ARFIMA) by incorporating the COVID-19-associated public health intervention variables was developed to evaluate the long-term effectiveness of interventions and forecast ZVBs epidemics from August 2023 to December 2025. RESULTS: Over the study period, there were 1,599,647 ZVBs incidents. HFRS and rabies exhibited declining trends, HB showed an upward trajectory, while the others remained relatively stable. The ARFIMA, incorporating a pulse pattern, estimated the average monthly number of changes of - 83 (95% confidence interval [CI] - 353-189) cases, - 3 (95% CI - 33-29) cases, - 468 (95% CI - 1531-597) cases, 2191 (95% CI 1056-3326) cases, 7 (95% CI - 24-38) cases, - 84 (95% CI - 222-55) cases, and - 214 (95% CI - 1036-608) cases for HFRS, rabies, DF, HB, leptospirosis, malaria, and schistosomiasis, respectively, although these changes were not statistically significant besides HB. ARFIMA predicted a decrease in HB cases between August 2023 and December 2025, while indicating a relative plateau for the others. CONCLUSIONS: China's dynamic zero COVID-19 strategy may have exerted a lasting influence on HFRS, rabies, DF, malaria, and schistosomiasis, beyond immediate consequences, but not affect HB and leptospirosis. ARFIMA emerges as a potent tool for intervention analysis, providing valuable insights into the sustained effectiveness of interventions. Consequently, the application of ARFIMA contributes to informed decision-making, the design of effective interventions, and advancements across various fields.

Resistance training up-regulates Smyd1 expression and inhibits oxidative stress and endoplasmic reticulum stress in the heart of middle-aged mice.

Persistent oxidative stress and endoplasmic reticulum (ER) stress are the primary mechanisms of age-related cardiovascular diseases. Although exercise training is viewed as an effective anti-aging approach, further exploration is needed to identify the mechanisms and functional targets. In this study, the impact of resistance training (RT) on the expression of Smyd1, the levels of reactive oxygen species (ROS) and the expression of ER stress-related protein in the hearts of mice of different ages were assessed. In addition, the role of Smyd1 in the aging-induced oxidative stress and ER stress were evaluated in d-galactose (D-gal)-treated H9C2 cells. We demonstrated that RT in middle age increased the expression of Smyd1 and restricted heart aging-induced ER stress. Overexpression of Smyd1 restrained oxidative stress and ER stress in D-gal-treated H9C2 cells, while the inhibition of Nrf2 and Smyd1 escalated ER stress. These findings demonstrate that Smyd1 has significant impact in regulating age-related ER stress. RT in middle age can up-regulates Smyd1 expression and inhibits oxidative stress and ER stress in the heart.

Using Decellularized Magnetic Microrobots to Deliver Functional Cells for Cartilage Regeneration.

The use of natural cartilage extracellular matrix (ECM) has gained widespread attention in the field of cartilage tissue engineering. However, current approaches for delivering functional scaffolds for osteoarthritis (OA) therapy rely on knee surgery, which is limited by the narrow and complex structure of the articular cavity and carries the risk of injuring surrounding tissues. This work introduces a novel cell microcarrier, magnetized cartilage ECM-derived scaffolds (M-CEDSs), which are derived from decellularized natural porcine cartilage ECM. Human bone marrow mesenchymal stem cells are selected for their therapeutic potential in OA treatments. Owing to their natural composition, M-CEDSs have a biomechanical environment similar to that of human cartilage and can efficiently load functional cells while maintaining high mobility. The cells are released spontaneously at a target location for at least 20 days. Furthermore, cell-seeded M-CEDSs show better knee joint function recovery than control groups 3 weeks after surgery in preclinical experiments, and ex vivo experiments reveal that M-CEDSs can rapidly aggregate inside tissue samples. This work demonstrates the use of decellularized microrobots for cell delivery and their in vivo therapeutic effects in preclinical tests.

Multi-elemental stoichiometric ratios of atmospheric wet deposition in Chinese terrestrial ecosystems.

Intense human activities have significantly altered the concentrations of atmospheric components that enter ecosystems through wet and dry deposition, thereby affecting elemental cycles. However, atmospheric wet deposition multi-elemental stoichiometric ratios are poorly understood, hindering systematic exploration of atmospheric deposition effects on ecosystems. Monthly precipitation concentrations of six elements-nitrogen (N), phosphorus (P), sulfur (S), potassium (K), calcium (Ca), and magnesium (Mg)-were measured from 2013 to 2021 by the China Wet Deposition Observation Network (ChinaWD). The multi-elemental stoichiometric ratio of atmospheric wet deposition in Chinese terrestrial ecosystems was N: K: Ca: Mg: S: P = 31: 11: 67: 5.5: 28: 1, and there were differences between vegetation zones. Wet deposition N: S and N: Ca ratios exhibited initially increasing then decreasing inter-annual trends, whereas N: P ratios did not exhibit significant trends, with strong interannual variability. Wet deposition of multi-elements was significantly spatially negatively correlated with soil nutrient elements content (except for N), which indicates that wet deposition could facilitate soil nutrient replenishment, especially for nutrient-poor areas. Wet N deposition and N: P ratios were spatially negatively correlated with ecosystem and soil P densities. Meanwhile, wet deposition N: P ratios were all higher than those of ecosystem components (vegetation, soil, litter, and microorganisms) in different vegetation zones. High input of N deposition may reinforce P limitations in part of the ecosystem. The findings of this study establish a foundation for designing multi-elemental control experiments and exploring the ecological effects of atmospheric deposition.

Long-term intermittent theta burst stimulation enhanced hippocampus-dependent memory by regulating hippocampal theta oscillation and neurotransmitter levels in healthy rats.

Intermittent theta burst stimulation (iTBS), an updated pattern of high-frequency repetitive transcranial magnetic stimulation, is a potential candidate for improving memory. The hippocampus has been shown to be involved in the memory-enhancing effect induced by iTBS. However, it remains largely unknown whether this effect is achieved by regulating hippocampal theta oscillation and neurotransmitters gamma-aminobutyric acid (GABA) and glutamate, which are strongly related to memory. Thus, we investigated the effect of 14 days of iTBS on hippocampus-dependent memory and further explored the roles of hippocampal theta oscillation and neurotransmitters GABA and glutamate in this effect. We found that compared to sham iTBS, real iTBS enhanced hippocampus-dependent memory measured by hole-board test and object place recognition test. Further, real iTBS increased the density of c-Fos positive neurons and normalized power of theta oscillation in the dorsal hippocampus (dHip) compared to sham iTBS. Interestingly, we observed a decrease in the level of extracellular GABA and an increase in the level of extracellular glutamate in the dHip after real iTBS. Our results suggest that long-term iTBS improved hippocampus-dependent memory, which may be attributed to the enhancement of theta oscillation and altered levels of extracellular GABA and glutamate in the dHip.

Establishment of human induced pluripotent stem cell line (SDQLCHi060-A) from a patient with AUTS2 syndrome carrying a heterozygous mutation in AUTS2 gene.

AUTS2 syndrome is a neurodevelopmental disorder caused by pathogenic variants and deletions of the AUTS2 gene, resulting in intellectual disability, microcephaly, and other phenotypes. Here, we generated a human induced pluripotent stem cell (iPSC) line from a 21-month-old boy with AUTS2 syndrome caused by a heterozygous mutation (c.1486C > T, p.Q496X) in the AUTS2 gene. The iPSCs had normal morphology and karyotype, expressed pluripotency markers, showed differentiation potential in vitro, and carried the AUTS2 gene mutation.