Stem Cell Research (Apr 2024)

Generation of human induced pluripotent stem cell line from a patient with restrictive cardiomyopathy

  • Jingxian Li,
  • Jinxiu Jiang,
  • Lingqun Ye,
  • Zhipeng Lian,
  • Hui Gong,
  • Wei Lei,
  • Yuxiang Dai,
  • Shijun Hu

Journal volume & issue
Vol. 76
p. 103370

Abstract

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Restrictive cardiomyopathy (RCM) is a rare cardiomyopathy characterized by diastolic dysfunction, which affects cardiac systolic function. We successfully established human induced pluripotent stem cells (hiPSCs) from peripheral blood mononuclear cells of 24-year-old male with restrictive cardiomyopathy (RCM). The patient-derived hiPSCs carried heterozygous mutation of CRYAB gene (c.326A > G, p.D109G), which was consistent with clinical whole exon sequencing results. We confirmed the pluripotency, multipotential differentiation and karyotype of hiPSCs. The hiPSCs will be useful for studying the pathogenesis of RCM caused by CRYAB (c.326A > G) mutation.