Derivation of YCMi005-A, a human-induced pluripotent stem cell line, from a patient with dilated cardiomyopathy carrying missense variant in TPM1 (p. Glu192Lys)

Stem Cell Res. 2022 Apr:60:102707. doi: 10.1016/j.scr.2022.102707. Epub 2022 Feb 9.

Abstract

Dilated cardiomyopathy (DCM) is one of the leading causes of heart transplantation. The clinical feature of DCM is characterized by enlarged heart and impaired function of the left or both ventricles, while its etiology is varied. In this study, we generated YCMi005-A, a human-induced pluripotent stem cell (hiPSC) line from a patient with DCM carrying the missense mutation of p.Glu192Lys in the TPM1 genes. YCMi005-A, an established hiPSC, showed the normal karyotype (46, XX) and high expression of pluripotency markers. In addition, it was confirmed that YCMi005-A has the differentiation potential assessed by staining of three germ layer markers.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cardiomyopathy, Dilated* / genetics
  • Cell Differentiation
  • Humans
  • Induced Pluripotent Stem Cells*
  • Mutation
  • Mutation, Missense
  • Tropomyosin / genetics

Substances

  • TPM1 protein, human
  • Tropomyosin