Generation of an induced pluripotent stem cell line from a Chinese Han child with catecholaminergic polymorphic ventricular tachycardia

被引：2
|
作者：
Liu, Wei [1 ]
Liu, Ting [3 ]
Xiao, Tingting [1 ,2 ]
Xie, Lijian [1 ]
Hou, Cuilan [1 ,2 ]
Jiang, Xunwei [1 ]
机构：
[1] Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Sch Med, Dept Cardiol, 355 Luding Rd, Shanghai 200062, Peoples R China
[2] Shanghai Key Lab Embryo & Reprod Engn, NHC Key Lab Med Embryogenesis & Dev Mol Biol, Shanghai 200062, Peoples R China
[3] Fudan Univ, Huashan Hosp, Dept Pediat Internal Med, 108 Luxiang Rd, Shanghai 201900, Peoples R China
来源：
STEM CELL RESEARCH | 2022年 / 62卷
基金：
中国国家自然科学基金;
关键词：
D O I：
10.1016/j.scr.2022.102811
中图分类号：
Q813 [细胞工程];
学科分类号：
摘要：
TECRL, first reported in a Sudanese family with catecholaminergic polymorphic ventricular tachycardia (CPVT) in 2016. TECRL, is an endoplasmic reticulum (ER) protein preferentially expressed in the heart, playing a role in cardiomyocyte calcium homeostasis. Using Sendaivirus-mediated reprogramming, we generated an induced pluripotent stem cell (iPSC) line from the CPVT patient's peripheral blood mononuclear cell. The iPSC exhibited stable amplification, expressed pluripotent markers, and differentiated spontaneously into three layers in vitro. Additionally, the iPSC line maintained a normal karyotype, retained the pathogenic TECRL mutation, and the cell resource facilitated a platform to explore the CPVT mechanisms related to TECRL mutations.
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页数：5
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