从一名患有肺动脉高压的患者中获得的诱导多能干细胞系（PUMCHi006-A），该患者携带PTGIS基因杂合性c.1339 G>A突变。
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.
作者信息
Zhu Yong-Jian, Zhang Si-Jin, Wu Xiao-Han, Lian Tian-Yu, He Yang-Zhige, Zhang Ze-Jian, Lu Dan, Sun Kai, Wang Hui-Fang, Jing Zhi-Cheng
机构信息
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.
Department of Cardio-Pulmonary Circulation, Shanghai Pulmonary Hospital, Tongji University School of Medicine, Shanghai, China.
出版信息
Stem Cell Res. 2020 Dec;49:102088. doi: 10.1016/j.scr.2020.102088. Epub 2020 Nov 15.
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.
我们之前的研究发现，PTGIS基因突变会导致肺动脉高压（PAH）的易感性增加。我们从一名携带PTGIS基因杂合c.1339 G>A突变的PAH患者身上生成了疾病特异性诱导多能干细胞（iPSC）系。所生成的iPSC系可分化为内皮细胞，以研究与PTGIS基因相关的PAH发病机制，这可为个性化医疗提供有价值的资源。
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