RESUMEN
Bcl-2-associated X protein (BAX) and Blc-2 homologous antagonist killer 1 (BAK) are two pro-apoptotic members of BCL2 family. Here, two BAX/BAK double knock-out human induced pluripotent stem cell lines (iPSC) we generated using CRISPR-Cas9 to generate apoptosis incompetent cell lines. The resulting cell lines were karyotypically normal, had typical morphology and expressed typical markers for the undifferentiated state.
Asunto(s)
Células Madre Pluripotentes Inducidas , Proteínas Proto-Oncogénicas c-bcl-2 , Humanos , Proteína X Asociada a bcl-2/genética , Proteína X Asociada a bcl-2/metabolismo , Proteínas Proto-Oncogénicas c-bcl-2/genética , Proteínas Proto-Oncogénicas c-bcl-2/metabolismo , Células Madre Pluripotentes Inducidas/metabolismo , Proteína Destructora del Antagonista Homólogo bcl-2/genética , Proteína Destructora del Antagonista Homólogo bcl-2/metabolismo , Sistemas CRISPR-Cas/genética , Apoptosis/genéticaRESUMEN
MIRAGE syndrome is a multisystem disorder caused by mutations in SAMD9 (sterile α motif domain-containing protein 9) with a high mortality in the first decade of life. We generated 2 human induced pluripotent stem cell lines from male children diagnosed with MIRAGE syndrome. The cell lines were generated from fibroblasts by integration-free reprogramming using the Sendai virus. Both cell lines were fully characterized regarding their pluripotent identity and differentiation potential, and quality controlled for karyotypic integrity, cell line identity and clearance of reprogramming vectors. The generated cell lines represent a valuable tool to study the disease mechanism of MIRAGE syndrome.
Asunto(s)
Células Madre Pluripotentes Inducidas , Diferenciación Celular , Línea Celular , Reprogramación Celular , Niño , Fibroblastos , Humanos , Péptidos y Proteínas de Señalización Intracelular , Masculino , Virus Sendai/genéticaRESUMEN
Focal segmental glomerulosclerosis (FSGS) is a major cause of familial nephrotic syndrome. We generated 20 induced pluripotent stem cell lines from patients diagnosed with FSGS. The iPSC lines include 8 female and 12 male lines and cover a donor age range from 31 to 78. The lines were generated from peripheral blood mononuclear cells by integration-free reprogramming using Sendai virus vectors. Cell lines were fully characterized regarding their pluripotency and differentiation potential, and quality controlled for karyotypic integrity, identity and clearance of reprogramming vectors. The generated cell lines represent a valuable tool for disease modelling and drug development for FSGS.
Asunto(s)
Glomeruloesclerosis Focal y Segmentaria , Células Madre Pluripotentes Inducidas , Línea Celular , Femenino , Glomeruloesclerosis Focal y Segmentaria/genética , Humanos , Leucocitos Mononucleares , Masculino , Virus Sendai/genéticaRESUMEN
The use of large-particle stabilized hyaluronic acid-based gel of nonanimal origin (NASHA™) for facial aesthetic procedures is widespread and increasing. A panel of experts with extensive clinical experience with NASHA based gel recently attended an advisory board meeting to develop guidelines for its use in volumetric tissue augmentation.Discussions included details of the blunt-cannula injection technique currently recommended for administration of large-particle NASHA-based gel. With the aim of optimizing patient comfort and control over administration of NASHA-based gel, the panel members explored an alternative,sharp-needle technique. In this article we describe the new technique in detail, together with practical recommendations and precautions. The technique has several advantages over blunt-cannula injection: improved patient comfort, lack of need for a skin incision, increased precision regarding the implant position, and improved control of injection volume. However, the sharp-needle technique requires a high level of skill and a good knowledge of facial anatomy.
