Generation of two induced pluripotent stem cell lines from dilated cardiomyopathy patients carrying TTN mutations

Stem Cell Res. 2022 Dec:65:102941. doi: 10.1016/j.scr.2022.102941. Epub 2022 Oct 13.

Abstract

Dilated cardiomyopathy (DCM) is a common heart disease that can lead to heart failure and sudden cardiac death. Mutations in the TTN gene are the most frequent cause of DCM. Here, we generated two human induced pluripotent stem cell (iPSC) lines from the peripheral blood mononuclear cells (PBMCs) of two DCM patients carrying c.94816C>T and c.104188A>G mutations in TTN, respectively. The two lines exhibited a normal morphology, full expression of pluripotency markers, a normal karyotype and the ability of trilineage differentiation. The two lines can serve as useful tools for drug screening and mechanism studies on DCM.

Publication types

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

MeSH terms

  • Cardiomyopathy, Dilated* / genetics
  • Cell Line
  • Connectin / genetics
  • Humans
  • Induced Pluripotent Stem Cells*
  • Leukocytes, Mononuclear

Substances

  • Connectin
  • TTN protein, human