Establishment and characterization of a human embryonic stem cell line carrying a heterozygous GATA4T280M mutation

Summary

Heterozygous T280M mutation in the GATA4 gene, encoding GATA binding protein 4, was recently identified in patients with congenital heart disease (CHD). Here, a human embryonic stem cell line carrying a heterozygous GATA4T280M mutation was generated by using the CRISPR/Cas9 and piggyBac technologies. This GATA4T280M cell line remains normal morphology, pluripotency and karyotype, and could differentiate into all three germ layers both in vivo and in vitro. Thus, the GATA4T280M cell line will be a useful platform to model GATA4-associated CHD through the induction of cardiomyocyte differentiation in vitro. Copyright © 2021 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Ye L, Yu Y, Wang Y, Huang Y, Yu M, Lei W, Tang JM, Hu S
Journal Stem cell research
Publication Date 2021 May;53:102393
PubMed 34088018
DOI 10.1016/j.scr.2021.102393

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