期刊
STEM CELL RESEARCH
卷 52, 期 -, 页码 -出版社
ELSEVIER
DOI: 10.1016/j.scr.2021.102208
关键词
-
资金
- German Research Foundation (DFG) [EXC62/3, ZW64/4-1, MA2331/16-1, KR1187/21-1, BR849/31-1]
The study generated two iPSC clones from a HCM patient, heterozygous for the p.Arg723Gly mutation in the MYH7 gene, which could be valuable for investigating the pathogenesis of HCM.
Hypertrophic cardiomyopathy (HCM) is the most common form of genetic heart disease and is characterized by abnormal thickening of the left ventricular wall and interventricular septum. Here we describe the generation of two induced pluripotent stem cell (iPSC) clones from a HCM patient, heterozygous for the p.Arg723Gly (c.2169C > G) mutation in the MYH7 gene. The generated iPSC clones may provide a useful resource for disease modelling to study the mechanisms underlying HCM pathogenesis in iPSC derived progenies, in particular cardiomyocytes.
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