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 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. Copyright © 2020 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors He S, Hu J, Zheng Z, Wang J, Chen J, Zhang C, Li L, Wang J, Chen Z, Shi H, Wang J
Journal Stem cell research
Publication Date 2020 May;45:101774
PubMed 32247258
DOI 10.1016/j.scr.2020.101774

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