Generation of human induced pluripotent stem cell lines carrying heterozygous PLN mutation from dilated cardiomyopathy patients

Stem Cell Res. 2022 Aug:63:102855. doi: 10.1016/j.scr.2022.102855. Epub 2022 Jul 11.

Abstract

Familial dilated cardiomyopathy (DCM) is among the most prevalent forms of inherited heart disease. Here, two human-induced pluripotent stem cell (iPSC) lines were generated from peripheral blood mononuclear cells (PBMCs) from DCM patients carrying different mutations in the phospholamban encoding-gene (PLN). Both iPSC lines exhibited normal morphology, karyotype, pluripotency marker expression, and differentiation into the three germ layers. These patient-specific iPSC lines serve as valuable in vitro models for DCM pathology caused by PLN mutations.

Keywords: Dilated cardiomyopathy; Phospholamban; Stem cell; iPSC.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, N.I.H., Extramural

MeSH terms

  • Calcium-Binding Proteins
  • Cardiomyopathy, Dilated* / genetics
  • Cell Culture Techniques
  • Cells, Cultured
  • Heterozygote
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Leukocytes, Mononuclear / metabolism
  • Mutation / genetics

Substances

  • Calcium-Binding Proteins
  • phospholamban