Waardenburg综合征iPSC细胞系CSUXHi004-A的建立与鉴定
Establishment of an iPSC line (CSUXHi004-A) from a patient with Waardenburg syndrome type I caused by a PAX3 splice mutation
Jie Wen, Chufeng He, Yong Feng, Jian Song, Jing Liu, Xianlin Liu, Lingyun Mei, Jie Ling, Hongsheng Chen, Yalan Liu
Journal：Stem Cell Research
IF：2.02
DOI：10.1016/j.scr.2021.102300
PMID：33774334
Published：2021-03-18
research field：药理学胃肠病学中医学微生物学系统生物学
Abstract
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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