Generation of two iPSC clones (MHHi021-A and MHHi021-B) from a patient with hypertrophic cardiomyopathy with p.Arg723Gly mutation in the MYH7 gene

Stem Cell Res. 2021 Apr:52:102208. doi: 10.1016/j.scr.2021.102208. Epub 2021 Feb 3.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cardiac Myosins / genetics
  • Cardiomyopathy, Hypertrophic* / genetics
  • Clone Cells
  • Humans
  • Induced Pluripotent Stem Cells*
  • Mutation
  • Myocytes, Cardiac
  • Myosin Heavy Chains / genetics

Substances

  • MYH7 protein, human
  • Cardiac Myosins
  • Myosin Heavy Chains