Generation of a human induced pluripotent stem cell line derived from a patient with dilated cardiomyopathy carrying LMNA nonsense mutation

Stem Cell Res. 2022 Jul;62:102793. doi: 10.1016/j.scr.2022.102793. Epub 2022 Apr 27.

Abstract

Dilated cardiomyopathy (DCM) is a refractory heart disease characterized by dilation of the left ventricle and systolic dysfunction. LMNA, the gene encoding lamin A/C (a nuclear envelope protein), is the second leading causative gene associated with familial DCM. LMNA-related DCM is likely to develop severe heart failure, various types of arrhythmias, and poor prognosis. We established a human induced pluripotent stem cell line, derived from a patient with DCM carrying a nonsense mutation in LMNA. This line should be a useful resource for elucidating disease mechanisms and developing fundamental treatments for LMNA-related DCM.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Arrhythmias, Cardiac
  • Cardiomyopathy, Dilated* / genetics
  • Codon, Nonsense
  • Heart
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Lamin Type A / genetics
  • Mutation

Substances

  • Codon, Nonsense
  • LMNA protein, human
  • Lamin Type A