期刊
STEM CELL RESEARCH
卷 61, 期 -, 页码 -出版社
ELSEVIER
DOI: 10.1016/j.scr.2022.102774
关键词
Hypertrophic cardiomyopathy; Induced pluripotent stem cells; MYBPC3; and PRKAG2
资金
- National Institutes of Health [75N92020D00019, R01 HL126527, R01 HL130020, P01 HL141084]
In this study, two induced pluripotent stem cell lines were generated from HCM patients carrying mutations in MYBPC3 and PRKAG2, providing valuable tools for investigating the pathological mechanisms of HCM.
Hypertrophic cardiomyopathy (HCM) is an inherited cardiac disorder characterized by a thick left ventricular wall and an increased risk of arrhythmias, heart failure, and sudden cardiac death. The MYBPC3 and PRAKG2 are known causal genes for HCM. Here we generated two human-induced pluripotent stem cell lines from two HCM patients carrying two heterozygous mutations in MYBPC3 (c.459delC) and PRKAG2 (c.1703C > T). Both iPSC lines expressed pluripotent markers, had a normal karyotype, and were able to differentiate into three germ layers, making them potentially valuable tools for modeling HCM in vitro and investigating the pathological mechanisms related to these two variants.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据