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


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. Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Wang L, Li X, Fu W, Zhang S, Du W, Zhao J, Liu M, Wang M, Liu Y, Hu L, Ding Z, Li L, Zhao X, Dong J
Journal Stem cell research
Publication Date 2020 Dec 24;50:102138
PubMed 33385793
DOI 10.1016/j.scr.2020.102138

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