Waardenburg syndrome (WS) is an inherited auditory-pigmentary syndrome characterized by deafness and pigment abnormalities. Here, we generated an induced pluripotent stem cell (iPSC) line using episomal plasmid vectors from the fibroblasts of an 8-year-old boy affected with WS, caused by a novel mutation in the SOX10 gene (NM_006941.3: c.937_947del; p.Tyr313Argfs*85), with a concurrent hotspot mutation in the GJB2 gene (NM_004004.5:c.235delC; p.Leu79Cysfs*3). The expression of pluripotency markers of the iPSC cell line was verified at both the mRNA and protein levels and the pluripotency state of the cell line was demonstrated by the capability to differentiate into all three germ layers.

Waardenburg 综合征 (WS) 是一种以耳聋和色素异常为特征的遗传性听觉色素综合征。在这里，我们使用来自受 WS 影响的 8 岁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，这是由SOX10基因中的新突变引起的 (NM_006941.3: c.937_947del; p.Tyr313Argfs*85），在GJB2基因中同时存在热点突变（NM_004004.5:c.235delC；p.Leu79Cysfs*3）。iPSC 细胞系的多能性标志物的表达在 mRNA 和蛋白质水平都得到验证，细胞系的多能性状态通过分化成所有三个胚层的能力来证明。