Establishment of an iPSC line (CSUXHi003-A) from a patient with Waardenburg syndrome type Ⅱ caused by a MITF mutation
Jie Wen, Jian Song, Chufeng He, Jie Ling, Yalan Liu, Hongsheng Chen, Wei Gong, Lingyun Mei, Yong Feng
Journal：Stem Cell Research
IF：2.02
DOI：10.1016/j.scr.2021.102157
PMID：33454628
Published：2021-01-09
research field：传染病检测抗菌素耐药性即时检测CRISPR技术核酸扩增分子诊断
Abstract
Waardenburg syndrome (WS) is a genetic disorder characterized by sensorineural deafness. It has a variable presentation of pigmentation defects. Here, we generated an induced pluripotent stem cell (iPSC) line using episomal plasmid vectors from the fibroblasts of a 4-year-old boy affected with WS type II, caused by a novel mutation in microphthalmia-associated transcription factor ( MITF ) (NM_000248.3: exon6:c.626A>T). The patient-specific iPSC line (CSUXHi003-A) carrying the same MITF mutation showed normal karyotype, expressed pluripotent markers, and presented differentiation capacity in vitro . It may be a useful tool for in vitro modeling of WS.
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