RESUMEN
Hypertrophic cardiomyopathy (HCM) is an autosomal dominant heart disease. An induced pluripotent stem cell line (EHTJUi003-A) was generated from umbilical cord blood mononuclear cells (UCBMCs) of a female neonate with heterozygous mutation of p.L460Wfs (c.1377delC) in the MYBPC3 gene. This iPSC model offers a very valuable resource to study the pathological mechanism of HCM in vitro.
Asunto(s)
Cardiomiopatía Hipertrófica , Células Madre Pluripotentes Inducidas , Cardiomiopatía Hipertrófica/genética , Proteínas del Citoesqueleto , Femenino , Heterocigoto , Humanos , Recién Nacido , MutaciónRESUMEN
Familial Arrhythmogenic Right Ventricular Dysplasia (ARVD) is a primary cardiomyopathy characterized by the abnormality of the right ventricular muscle. ARVD may be life-threatening due to the induction of paroxysmal refractory ventricular tachycardia or supraventricular arrhythmia. A human induced pluripotent stem cell line (EHTJUi004-A) was generated from human umbilical cord blood mononuclear cells (UCBMCs) of a female neonate with heterozygous mutation of p.Leu1563fs (c.4683_4684delCT) in the DSP gene. This iPS cell line resource provides an ideal in vitro model to study the pathological mechanism of ARVD.
Asunto(s)
Displasia Ventricular Derecha Arritmogénica , Células Madre Pluripotentes Inducidas , Taquicardia Ventricular , Arritmias Cardíacas , Displasia Ventricular Derecha Arritmogénica/genética , Femenino , Humanos , Recién Nacido , MutaciónRESUMEN
SUV39H1 is a histone methyltransferase involve numerous biological processes, including of aging, embryo development, tumor growth and mitosis via catalysis of dimethylation and trimethylation of lysine 9 of histone H3. Here we report a human induced pluripotent stem cell line (EHTJUi005-A-1) which is generated from a wildtype human iPSC previously established in our laboratory, and this iPSC has a homozygous knockout of 8 bp in Exon 2 of SUV39H1. This iPSC model provides a valuable resource to study epigenetic regulation in extensive biological processes as mentioned above.
Asunto(s)
Células Madre Pluripotentes Inducidas , Sistemas CRISPR-Cas/genética , Epigénesis Genética , Histona Metiltransferasas , Histonas/genética , Histonas/metabolismo , Humanos , Células Madre Pluripotentes Inducidas/metabolismo , Metiltransferasas/genética , Metiltransferasas/metabolismo , Proteínas Represoras/genéticaRESUMEN
LAMIN A/C, encoded by the LMNA gene, supports the normal structure of the cell nucleus and regulates the connection between the nucleus and the cytoskeleton as a component of the nucleus envelope. The loss of expression and function of the LMNA gene would lead to the occurrence of congenital muscular dystrophy and Emery-Dreifuss muscular dystrophy which are collectively named as laminopathies. Here, we report a human induced pluripotent stem cell (iPSC) line (EHTJUi005-A-3) generated from a wild iPSC (EHTJUi005-A) with homozygous knockout of the gene LMNA through CRISPR/Cas9. This iPSC line provides a useful research model for studying laminopathies disease.
Asunto(s)
Células Madre Pluripotentes Inducidas , Laminopatías , Distrofia Muscular de Emery-Dreifuss , Sistemas CRISPR-Cas/genética , Humanos , Células Madre Pluripotentes Inducidas/metabolismo , Lamina Tipo A/genética , Lamina Tipo A/metabolismo , Distrofia Muscular de Emery-Dreifuss/genética , Mutación , TecnologíaRESUMEN
Familial exudative vitreoretinopathy (FEVR) is an autosomal dominant genetic disease. An induced pluripotent stem cell line (EHTJUi002-A) was generated from umbilical cord blood mononuclear cells (UCBMCs) of a neonate with heterozygous mutation of p.W226X(c.678G>A) in the FZD4 gene. This iPSC model offers a very valuable resource to study the pathological mechanism of FEVR in vitro.