Establishing a human embryonic stem cell line (SKLRMe005-A) from a blastocyst with congenital heart disease (CHD)

Chuyu Li; Xiaohan Dong; Yuting Lin; Xueping Sun; Lingbo Cai; Xiaoyu Yang; Yugui Cui; Lianju Qin; Jing Wang

doi:10.1016/j.scr.2023.103049

Establishing a human embryonic stem cell line (SKLRMe005-A) from a blastocyst with congenital heart disease (CHD)

Stem Cell Res. 2023 Apr:68:103049. doi: 10.1016/j.scr.2023.103049. Epub 2023 Feb 13.

Authors

Chuyu Li¹, Xiaohan Dong¹, Yuting Lin¹, Xueping Sun¹, Lingbo Cai¹, Xiaoyu Yang¹, Yugui Cui¹, Lianju Qin², Jing Wang³

Affiliations

¹ State Key Laboratory of Reproductive Medicine, Clinical Center of Reproductive Medicine, First Affiliated Hospital of Nanjing Medical University, Nanjing Medical University, 210029 Nanjing, Jiangsu, China.
² State Key Laboratory of Reproductive Medicine, Clinical Center of Reproductive Medicine, First Affiliated Hospital of Nanjing Medical University, Nanjing Medical University, 210029 Nanjing, Jiangsu, China. Electronic address: ljqin@njmu.edu.cn.
³ State Key Laboratory of Reproductive Medicine, Clinical Center of Reproductive Medicine, First Affiliated Hospital of Nanjing Medical University, Nanjing Medical University, 210029 Nanjing, Jiangsu, China. Electronic address: wjbonnie@163.com.

PMID: 36805323
DOI: 10.1016/j.scr.2023.103049

Abstract

GATA binding protein 6 (GATA6) is an important transcription factor of cardiovascular endothelial cells, has the potential to regulate the process of cardiac development. Consequently, its abnormal expression is related to congenital heart disease.Human GATA6 gene clones were on chromosome 18 q11.1- q 11.2, consists of 7 exons and 6 intron.Now, a human embryonic stem cell line with GATA6 c.620_647del (p.S208Afs*77) mutation was generated. Interestingly, the ESC line displayed a normal karyotype, pluripotency and morphology of stem cells.This cell line has the ability to undergo differentiation into three germ layers in vivo.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Blastocyst
Cell Differentiation / genetics
Cell Line
Embryonic Stem Cells / metabolism
Endothelial Cells
Heart Defects, Congenital* / genetics
Heart Defects, Congenital* / metabolism
Human Embryonic Stem Cells*
Humans