Generation of a hiPSC line ZZUNEUi007-A from a patient with hypertrophic cardiomyopathy caused by mutation in MYH7

Stem Cell Res. 2020 Mar:43:101699. doi: 10.1016/j.scr.2020.101699. Epub 2020 Jan 7.

Abstract

Hypertrophic cardiomyopathy (HCM) is the most common monogenic cardiovascular disorder. In this study, we generated human induced pluripotent stem cells (iPSC) ZZUNEUi007-A from dermal fibroblasts of an HCM patient with the p. R663H (c. 1988 G > A) mutation in MYH7. The generated hiPSC line had normal karyotype, showed robust expression of pluripotency markers and could differentiate into all three germ layers in vivo.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Cardiac Myosins / genetics*
  • Cardiomyopathy, Hypertrophic / genetics*
  • Female
  • Humans
  • Induced Pluripotent Stem Cells / metabolism*
  • Mutation
  • Myosin Heavy Chains / genetics*

Substances

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