Establishment of an iPSC line (JSPHi001-A) from a patient with familial dilated cardiomyopathy and atrial fibrillation caused by LMNA missense mutation (c.1003C > T)

Stem Cell Res. 2021 May:53:102349. doi: 10.1016/j.scr.2021.102349. Epub 2021 Apr 16.

Abstract

Peripheral blood mononuclear cells (PBMCs) were harvested and reprogramed to induced pluripotent stem cells (iPSCs) from a 46-year-old male patient with familial dilated cardiomyopathy and atrial fibrillation via a non-integrating system. A missense mutation in the LMNA gene (c.1003C > T) was identified by whole-exome sequencing and verified by Sanger sequencing. The pluripotency, differentiation potential, and karyotype of this cell line were also tested. This model is helpful to study the phenotype, mechanism, and therapy for laminopathy.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Atrial Fibrillation* / genetics
  • Cardiomyopathy, Dilated
  • Humans
  • Induced Pluripotent Stem Cells*
  • Lamin Type A / genetics
  • Leukocytes, Mononuclear
  • Male
  • Middle Aged
  • Mutation
  • Mutation, Missense

Substances

  • LMNA protein, human
  • Lamin Type A

Supplementary concepts

  • Familial dilated cardiomyopathy