Stem Cell Research (Apr 2023)

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

Journal volume & issue
Vol. 68
p. 103049

Abstract

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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.