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

Stem cell research - 1 May 2021

Ye Lingqun, Yu You, Wang Yong, Huang Ying, Yu Miao, Lei Wei, Tang Jun-Ming, Hu Shijun

Abstract excerpt

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...

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PMID: 34088018
DOI: 10.1016/j.scr.2021.102393

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