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.

Waardenburg综合征（WS）是一种以感觉神经性耳聋为特征的遗传性疾病。它具有色素沉着缺陷的变化形式。在这里，我们使用来自四岁受WS II型感染的男孩的成纤维细胞的附加型质粒载体生成了诱导多能干细胞（iPSC）系，该成纤维细胞是由小眼科相关转录因子（MITF）的新突变引起的（NM_000248 .3：exon6：c.626A> T）。携带相同MITF突变的患者特异性iPSC品系（CSUXHi003-A）表现出正常的核型，表达了多能标记，并在体外具有分化能力。它可能是WS体外建模的有用工具。