乘客3
生物
诱导多能干细胞
瓦登堡综合征
突变
听力损失
核型
剪接位点突变
遗传学
剪接
RNA剪接
基因
染色体
表型
胚胎干细胞
听力学
转录因子
医学
核糖核酸
作者
Jie Wen,Chufeng He,Yong Feng,Jian Song,Jing Liu,Xianlin Liu,Lingyun Mei,Jie Ling,Hongsheng Chen,Yalan Liu
标识
DOI:10.1016/j.scr.2021.102300
摘要
Waardenburg Syndrome (WS) is a common autosomal dominant syndrome associated with hearing loss. Its clinical manifestations include hearing impairment and pigmentation anomalies. In this study, we generated an induced pluripotent stem cell (iPSC) line from the Epstein–Barr virus-immortalized B lymphocytes of a 6-year-old boy affected with WS type I, caused by a heterozygous splice site mutation in the PAIRED BOX GENE 3 (PAX3) (NM_181457.3: c.452-2A > G). The patient-specific iPSC line (CSUXHi004-A) carrying the same PAX3 mutation showed a normal karyotype, expressed pluripotent markers, and presented differentiation capacity in vitro. This method may be a useful tool for the in vitro modeling of WS.
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