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...
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2020-05-01
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| Series: | Stem Cell Research |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1873506120300787 |
| 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. |
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| ISSN: | 1873-5061 |