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


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. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Zhu YJ, Zhang SJ, Wu XH, Lian TY, He YZ, Zhang ZJ, Lu D, Sun K, Wang HF, Jing ZC
Journal Stem cell research
Publication Date 2020 Dec;49:102088
PubMed 33221675
DOI 10.1016/j.scr.2020.102088

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