Establishment of an induced pluripotent stem cell line from a patient with CHARGE syndrome carrying a CHD7 (p.L1151Gfs*17) mutation

被引：1
|
作者：
He, Shouhuan [1 ]
Hu, Jintao [2 ,3 ]
Zheng, Zhong [4 ,5 ]
Wang, Jingjing [4 ,5 ]
Chen, Jianling [6 ]
Zhang, Cui [6 ]
Li, Liang [6 ]
Wang, Jiping [4 ,5 ]
Chen, Zhengnong [4 ,5 ]
Shi, Haibo [4 ,5 ,7 ]
Wang, Jinfu [6 ]
机构：
[1] Fudan Univ, Zhongshan Hosp, Qingpu Branch, Dept Otolaryngol, Shanghai 201700, Peoples R China
[2] Zhejiang Chinese Med Univ, Clin Med Coll 3, Hangzhou 310053, Peoples R China
[3] Hangzhou Xiaoshan Dist Chinese Med Hosp, Dept Orthoped, Hangzhou 311200, Peoples R China
[4] Shanghai Jiao Tong Univ, Dept Otolaryngol Head & Neck Surg, Affiliated Peoples Hosp 6, Shanghai 200233, Peoples R China
[5] Shanghai Jiao Tong Univ, Otolaryngol Inst, Shanghai 200233, Peoples R China
[6] Zhejiang Univ, Coll Life Sci, Inst Cell Biol, Lab Stem Cells, Hangzhou 310058, Zhejiang, Peoples R China
[7] Shanghai Key Lab Sleep Disordered Breathing, Shanghai 200233, Peoples R China
来源：
STEM CELL RESEARCH | 2020年 / 45卷
基金：
中国国家自然科学基金;
关键词：
D O I：
10.1016/j.scr.2020.101774
中图分类号：
Q813 [细胞工程];
学科分类号：
摘要：
CHARGE syndrome is a rare disease caused by a genetic disorder. The clinical features of this syndrome include coloboma of the eye, heart anomaly, choanal atresia, retardation of mental and somatic development, microphallus, ear abnormalities and/or deafness. CHD7 is the main causative gene for CHARGE syndrome. In this study, we generated an induced pluripotent stem cell (iPSC) line from the dermal fibroblasts of a 1.5 -year -old girl, carrying a de novo mutation ( CHD7 ;NM_017780;c.3449_3450delTC;p.L1151Gfs*17). This iPSC line will be a useful tool for investigating the pathogenesis and for developing treatment for this complicated syndrome.
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页数：5
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