Stem Cell Research (Jan 2021)

Generation of an IPSC line from a patient with hypertrophic cardiomyopathy carrying a mutation in MYH6 gene

  • Lu Wang,
  • Xiaowei Li,
  • Wanrong Fu,
  • Shuai Zhang,
  • Wenting Du,
  • Jing Zhao,
  • Mengduan Liu,
  • Mengyu Wang,
  • Yangyang Liu,
  • Liang Hu,
  • Zhongren Ding,
  • Ling Li,
  • Xiaoyan Zhao,
  • Jianzeng Dong

DOI
https://doi.org/10.1016/j.scr.2020.102138
Journal volume & issue
Vol. 50
p. 102138

Abstract

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An induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells (PBMCs) of a 41-year-old male patient with hypertrophic cardiomyopathy who carries a G3755A heterozygote mutation in the MYH6 gene. The generated iPSC line expressed pluripotency markers, exhibited a normal karyotype, presented the specific mutation, and demonstrated differentiation potential into three germ layers in vitro.