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