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.

CHARGE综合征是由遗传疾病引起的罕见疾病。该综合征的临床特征包括眼球状结肠癌，心脏异常，耳道闭锁，智力和躯体发育迟缓，微眼，耳朵异常和/或耳聋。CHD7是CHARGE综合征的主要致病基因。在这项研究中，我们从一个1.5岁女孩的皮肤成纤维细胞中产生了一个诱导多能干细胞（iPSC）系，该系具有从头突变（CHD7 ; NM_017780; c.3449_3450delTC; p.L1151Gfs * 17）。该iPSC品系将成为研究这种复杂综合征的发病机理和开发治疗方法的有用工具。