Generation of an IPSC line from a patient with hypertrophic cardiomyopathy carrying a mutation in MYH6 gene

Stem Cell Res. 2020 Dec 24:50:102138. doi: 10.1016/j.scr.2020.102138. Online ahead of print.

Abstract

An induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells (PBMCs) of a 41-year-old male patient with hypertrophic cardiomyopathy who carries a G3755A heterozygote mutation in the MYH6 gene. The generated iPSC line expressed pluripotency markers, exhibited a normal karyotype, presented the specific mutation, and demonstrated differentiation potential into three germ layers in vitro.