Stem Cell Research (Dec 2020)

Generation of an induced pluripotent stem cell line (PUMCHi006-A) derived from a patient with pulmonary arterial hypertension carrying heterozygous c.1339 G > A mutation in PTGIS gene

  • Yong-Jian Zhu,
  • Si-Jin Zhang,
  • Xiao-Han Wu,
  • Tian-Yu Lian,
  • Yang-Zhige He,
  • Ze-Jian Zhang,
  • Dan Lu,
  • Kai Sun,
  • Hui-Fang Wang,
  • Zhi-Cheng Jing

Journal volume & issue
Vol. 49
p. 102088


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Our previous study found that mutations in the PTGIS gene contributed high susceptibility to pulmonary arterial hypertension (PAH). We have generated disease-specific induced pluripotent stem cell (iPSC) lines from a PAH patient carrying the heterozygous c.1339 G > A mutation in PTGIS gene. The generated iPSC lines can be differentiated into endothelial cells to investigate the pathogenesis of PAH associated with PTGIS gene, which could provide valuable resources for personalized medicine.