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

Wen-Wen Jia; Ji-Zhen Lu; Lu Zhang; Hong-Xia Cao; Yi-Yao Qi; Han-Yu Zhu; Zhi-Hui Bai; Shou-Mei Zhang; Zhi-Bin Qiao; Yan Bao; Zhong-Min Liu

doi:10.1016/j.scr.2021.102328

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

Stem Cell Res. 2021 May:53:102328. doi: 10.1016/j.scr.2021.102328. Epub 2021 Apr 12.

Authors

Affiliations

¹ Institute for Regenerative Medicine, National Stem Cell Translational Resource Center, Shanghai East Hospital, School of Life Sciences and Technology, Tongji University, Shanghai 200092, China.
² Institute for Regenerative Medicine, National Stem Cell Translational Resource Center, Shanghai East Hospital, School of Life Sciences and Technology, Tongji University, Shanghai 200092, China. Electronic address: baoy_smmu@163.com.
³ Institute for Regenerative Medicine, National Stem Cell Translational Resource Center, Shanghai East Hospital, School of Life Sciences and Technology, Tongji University, Shanghai 200092, China. Electronic address: liu.zhongmin@tongji.edu.cn.

PMID: 34087980
DOI: 10.1016/j.scr.2021.102328

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cardiomyopathy, Hypertrophic* / genetics
Cytoskeletal Proteins
Female
Heterozygote
Humans
Induced Pluripotent Stem Cells*
Infant, Newborn
Mutation

Substances

Cytoskeletal Proteins