Generation of two heterozygous MYBPC3 mutation-carrying human iPSC lines, SCVIi001-A and SCVIi002-A, for modeling hypertrophic cardiomyopathy

Stem Cell Res. 2021 May;53:102279. doi: 10.1016/j.scr.2021.102279. Epub 2021 Mar 11.

Abstract

Hypertrophic cardiomyopathy (HCM) is an inherited heart disease that can cause sudden cardiac death and heart failure. HCM often arises from mutations in sarcomeric genes, among which the MYBPC3 is the most frequently mutated. Here we generated two human induced pluripotent stem cell (iPSC) lines from a HCM patient who has a familial history of HCM and his daughter who carries the pathogenic non-coding mutation. All lines show the typical morphology of pluripotent cells, a high expression of pluripotency markers, normal karyotype, and in vitro capacity to differentiate into all three germ layers. These lines provide a valuable resource for studying the molecular basis of HCM and drug screening for HCM.

Publication types

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

MeSH terms

  • Cardiac Myosins / genetics
  • Cardiomyopathy, Hypertrophic* / genetics
  • Heterozygote
  • Humans
  • Induced Pluripotent Stem Cells*
  • Mutation

Substances

  • Cardiac Myosins