An induced pluripotent stem cell line (EHTJUi003-A) generated from a neonate with c.1377delC mutation in the gene MYBPC3 causing hypertrophic cardiomyopathy


Hypertrophic cardiomyopathy (HCM) is an autosomal dominant heart disease. An induced pluripotent stem cell line (EHTJUi003-A) was generated from umbilical cord blood mononuclear cells (UCBMCs) of a female neonate with heterozygous mutation of p.L460Wfs (c.1377delC) in the MYBPC3 gene. This iPSC model offers a very valuable resource to study the pathological mechanism of HCM in vitro. Copyright © 2021. Published by Elsevier B.V.

Authors Jia WW, Lu JZ, Zhang L, Cao HX, Qi YY, Zhu HY, Bai ZH, Zhang SM, Qiao ZB, Bao Y, Liu ZM
Journal Stem cell research
Publication Date 2021 May;53:102328
PubMed 34087980
DOI 10.1016/j.scr.2021.102328

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