An Induced Pluripotent Stem Cell Line (EHTJUi003-A) Generated from a Neonate with C.1377delC Mutation in the Gene MYBPC3 Causing Hypertrophic Cardiomyopathy

Overview

Journal Stem Cell Res

Publisher Elsevier

Specialty Cell Biology

Date 2021 Jun 5

PMID 34087980

Citations 2

Authors

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

Affiliations

Soon will be listed here.

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.

Citing Articles

Generation of induced pluripotent stem cells from an individual with early onset and severe hypertrophic cardiomyopathy linked to MYBPC3: c.772G > A mutation.

Ribeiro M, Jager J, Furtado M, Carvalho T, Cabral J, Brito D Hum Cell. 2024; 37(4):1205-1214.

PMID: 38762696 PMC: 11194200. DOI: 10.1007/s13577-024-01073-y.

Modeling hypertrophic cardiomyopathy with human cardiomyocytes derived from induced pluripotent stem cells.

Li J, Feng X, Wei X Stem Cell Res Ther. 2022; 13(1):232.

PMID: 35659761 PMC: 9166443. DOI: 10.1186/s13287-022-02905-0.