Generation of two clonal iPSC lines, ICGi019-A and ICGi019-B, by reprogramming peripheral blood mononuclear cells of a patient suffering from hypertrophic cardiomyopathy and carrying a heterozygous p.M659I mutation in MYH7

Stem Cell Res. 2020 Jul:46:101840. doi: 10.1016/j.scr.2020.101840. Epub 2020 May 11.

Abstract

Hypertrophic cardiomyopathy (HCM) is one of the most frequent cardiovascular diseases but no methods to prevent its progression have been developed. Cardiomyocytes derived from patient-specific induced pluripotent stem cells can become a platform to study pathogenesis of the disease and to search for more effective therapy methods. We generated two iPSC lines from peripheral blood mononuclear cells of an HCM patient with heterozygous p.M659I mutation in MYH7 using episomal vectors. The iPSC lines expressed pluripotency markers, demonstrated ability to spontaneously differentiate into derivatives of three germ layers, and retained the mutation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cardiac Myosins / genetics
  • Cardiomyopathy, Hypertrophic* / genetics
  • Cell Differentiation
  • Humans
  • Induced Pluripotent Stem Cells*
  • Leukocytes, Mononuclear
  • Mutation
  • Myosin Heavy Chains / genetics

Substances

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