Generation of three induced pluripotent stem cell lines from hypertrophic cardiomyopathy patients carrying MYH7 mutations

Stem Cell Res. 2021 Aug:55:102455. doi: 10.1016/j.scr.2021.102455. Epub 2021 Jul 12.

Abstract

MYH7 heterozygous mutations are common genetic causes of hypertrophic cardiomyopathy (HCM). HCM is characterized by hypertrophy of the left ventricle and diastolic dysfunction. We generated three human induced pluripotent stem cell (iPSC) lines from three HCM patients each carrying a single heterozygous mutation in MYH7, c.2167C > T, c.4066G > A, and c.5135G > A, respectively. All lines expressed high levels of pluripotent markers, had normal karyotype, and possessed capability of differentiation into derivatives of the three germ layers, which can serve as valuable tools for modeling HCM in vitro and investigating the pathological mechanisms related to MYH7 mutations.

Keywords: MYH7; human induced pluripotent stem cells; hypertrophic cardiomyopathy.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

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

Substances

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