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Updated: Nov 3, 2025
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Published on: November 13, 2015
Establishment and characterization of a human embryonic stem cell line carrying a heterozygous GATA4T280M mutation
Lingqun Ye1, You Yu1, Yong Wang1
1Department of Cardiovascular Surgery of the First Affiliated Hospital & Institute for Cardiovascular Science, Collaborative Innovation Center of Hematology, State Key Laboratory of Radiation Medicine and Protection, Medical College, Soochow University, Suzhou 215000, China.
Abstract:
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.
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