An induced pluripotent stem cell line (EHTJUi003-A) generated from a neonate with c.1377delC mutation in the gene MYBPC3 causing hypertrophic cardiomyopathy

Autor: Wen-Wen Jia, Ji-Zhen Lu, Lu Zhang, Hong-Xia Cao, Yi-Yao Qi, Han-Yu Zhu, Zhi-Hui Bai, Shou-Mei Zhang, Zhi-Bin Qiao, Yan Bao, Zhong-Min Liu
Jazyk: angličtina
Rok vydání: 2021
Předmět:
Zdroj: Stem Cell Research, Vol 53, Iss , Pp 102328- (2021)
Druh dokumentu: article
ISSN: 1873-5061
DOI: 10.1016/j.scr.2021.102328
Popis: 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.
Databáze: Directory of Open Access Journals