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

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

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 CHAR...

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Bibliographic Details
Main Authors: Shouhuan He, Jintao Hu, Zhong Zheng, Jingjing Wang, Jianling Chen, Cui Zhang, Liang Li, Jiping Wang, Zhengnong Chen, Haibo Shi, Jinfu Wang
Format: Article
Language:English
Published: Elsevier 2020-05-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506120300787

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