Department 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.
Hubei Key Laboratory of Embryonic Stem Cell Research, School of Basic Medicine Science, Hubei University of Medicine, Shiyan 442000, China.
Stem Cell Res. 2021 May;53:102393. doi: 10.1016/j.scr.2021.102393. Epub 2021 May 12.
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 GATA4 mutation was generated by using the CRISPR/Cas9 and piggyBac technologies. This GATA4 cell line remains normal morphology, pluripotency and karyotype, and could differentiate into all three germ layers both in vivo and in vitro. Thus, the GATA4 cell line will be a useful platform to model GATA4-associated CHD through the induction of cardiomyocyte differentiation in vitro.
杂合 T280M 突变发生在 GATA4 基因上，该基因编码 GATA 结合蛋白 4，最近在患有先天性心脏病（CHD）的患者中被发现。在此，使用 CRISPR/Cas9 和 piggyBac 技术生成了携带杂合 GATA4 突变的人胚胎干细胞系。该 GATA4 细胞系保持正常形态、多能性和核型，并能在体内和体外分化为所有三个胚层。因此，该 GATA4 细胞系将成为通过体外诱导心肌细胞分化来模拟 GATA4 相关 CHD 的有用平台。
