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

Stem cell research - 1 May 2020

He Shouhuan, Hu Jintao, Zheng Zhong, Wang Jingjing, Chen Jianling, Zhang Cui, Li Liang, Wang Jiping, Chen Zhengnong, Shi Haibo, Wang Jinfu

Abstract excerpt

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...

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PMID: 32247258
DOI: 10.1016/j.scr.2020.101774

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