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

doi:10.1016/j.scr.2020.102088

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

Stem Cell Res. 2020 Dec:49:102088. doi: 10.1016/j.scr.2020.102088. Epub 2020 Nov 15.

Authors

Affiliations

¹ State Key Laboratory of Complex, Severe and Rare Disease and Department of Cardiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
² Department of Cardio-Pulmonary Circulation, Shanghai Pulmonary Hospital, Tongji University School of Medicine, Shanghai, China.
³ State Key Laboratory of Complex, Severe and Rare Disease and Medical Science Research Center, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
⁴ Department of Medical Laboratory, Weifang Medical University, Weifang, Shandong, China.
⁵ State Key Laboratory of Complex, Severe and Rare Disease and Department of Cardiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China. Electronic address: jingzhicheng@vip.163.com.

PMID: 33221675
DOI: 10.1016/j.scr.2020.102088

Abstract

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.

Publication types

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

MeSH terms

Cell Line*
Cytochrome P-450 Enzyme System / genetics*
Endothelial Cells
Heterozygote
Humans
Induced Pluripotent Stem Cells*
Mutation
Pulmonary Arterial Hypertension* / genetics

Substances

Cytochrome P-450 Enzyme System
PTGIS protein, human