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