Derivation of an induced pluripotent stem cell line (PUMCHi003-A) from a patient with pulmonary arterial hypertension carrying heterozygous mutation in PTGIS gene

Si-Jin Zhang, Tian-Yu Lian, Xi-Jie Zhu, Dan Lu, Xi-Qi Xu, Xin Jiang, Zhi-Cheng Jing
2020 Stem Cell Research  
Pulmonary arterial hypertension (PAH) is a rare but severe illness associated with mutations in the PTGIS gene. The single nucleotide variants may lead to the impairment of the endothelial cells functions, resulting in proliferation of the smooth muscle cells and occlusion of the pulmonary arterioles. We derived an induced pluripotent cell line from a PAH patient with heterozygous PTGIS c.755 G > A, which could serve as a unique model to understand the pathogenesis of PAH.
doi:10.1016/j.scr.2020.101875 pmid:32559633 fatcat:54zvbvrka5cnle4mzqvkbjnwma