| Autor: |
Shouhuan He, Jintao Hu, Zhong Zheng, Jingjing Wang, Jianling Chen, Cui Zhang, Liang Li, Jiping Wang, Zhengnong Chen, Haibo Shi, Jinfu Wang |
| Jazyk: |
angličtina |
| Rok vydání: |
2020 |
| Předmět: |
|
| Zdroj: |
Stem Cell Research, Vol 45, Iss , Pp - (2020) |
| Druh dokumentu: |
article |
| ISSN: |
1873-5061 |
| DOI: |
10.1016/j.scr.2020.101774 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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