Generating a human induced pluripotent stem cell line (XACHi018-A) from a Timothy syndrome infant carrying heterozygous CACNA1C c.1216G>A > A (p.G406R) mutation

被引：0
|
作者：
Jiang, Congshan [1 ]
Huang, Wenjun [1 ]
Zhou, Yafei [1 ]
Wang, Jie [1 ]
Lei, Hong [1 ]
Niu, Youguo [3 ]
Zhou, Rui [1 ]
Zhang, Yanmin [1 ,2 ]
机构：
[1] Xian Jiaotong Univ Xian, Xian Childrens Hosp,Xian Key Lab Childrens Hlth &, Shaanxi Inst Pediat Dis,Key Lab Precis Med Pediat, Natl Reg Childrens Med Ctr Northwest,Affiliated Ch, 69 Xijuyuan Lane, Xian 710003, Peoples R China
[2] Xi An Jiao Tong Univ, Xian Childrens Hosp, Dept Cardiol, Affiliated Childrens Hosp, Xian, Peoples R China
[3] Univ Cambridge, Dept Physiol Dev & Neurosci, Cambridge, England
来源：
STEM CELL RESEARCH | 2024年 / 80卷
基金：
中国国家自然科学基金;
关键词：
D O I：
10.1016/j.scr.2024.103513
中图分类号：
Q813 [细胞工程];
学科分类号：
摘要：
Timothy syndrome, an extremely rare disease, is closely associated with a mutation in CACNA1C gene, which encodes the cardiac L-type voltage-gated calcium channel (Cav1.2). In this study, we generated a human induced pluripotent stem cell (iPSC) line from a Timothy syndrome infant carrying heterozygous CACNA1C mutation (transcript variant NM_000719.7c.1216G>A: p.G406R). The generated iPSC line showed typical stem cell morphology, positively expressed pluripotency and proliferation markers, normal karyotype, and trilineage differentiation potential. Therefore, this patient-specific iPSC can be of great significance in investigating the mechanisms underlying Timothy syndrome, and hence establishing effective intervention strategies.
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页数：5
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