Human induced pluripotent stem cell line YCMi007-A generated from a dilated cardiomyopathy patient with a heterozygous dominant c.613C > T (p. Arg205Trp) variant of the TNNT2 gene

Stem Cell Res. 2023 Mar:67:103048. doi: 10.1016/j.scr.2023.103048. Epub 2023 Feb 14.

Abstract

Cardiac muscle troponin T protein binds to tropomyosin and regulates the calcium-dependent actin-myosin interaction on thin filaments in cardiomyocytes. Recent genetic studies have revealed that TNNT2 mutations are strongly linked to dilated cardiomyopathy (DCM). In this study, we generated YCMi007-A, a human induced pluripotent stem cell (hiPSC) line from a DCM patient with a p. Arg205Trp mutation in the TNNT2 gene. The YCMi007-A cells show high expression of pluripotent markers, normal karyotype, and differentiation into three germ layers. Thus, YCMi007-A-an established iPSC-could be useful for the investigation of DCM.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cardiomyopathy, Dilated* / genetics
  • Heterozygote
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Mutation
  • Myocytes, Cardiac / metabolism
  • Troponin T / genetics
  • Troponin T / metabolism

Substances

  • Troponin T
  • TNNT2 protein, human