We have generated new disease-specific induced pluripotent stem cell (iPSC) lines from skin fibroblasts obtained from a female patient with Joubert syndrome (JS) caused by compound heterozygous mutations in C5orf42 gene. The generated iPSCs offer an unprecedented opportunity to obtain iPSC-derived neurons to investigate the pathogenesis of JS in vitro and to develop therapeutic strategies.

中文翻译：

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从Joubert综合征患者产生诱导多能干细胞（iPSC）系，该患者在C5orf42基因中具有复合杂合突变

我们已经从由C5orf42基因的复合杂合突变引起的患有Joubert综合征（JS）的女性患者的皮肤成纤维细胞中生成了新的疾病特异性诱导多能干细胞（iPSC）系。生成的iPSC提供了前所未有的机会来获得iPSC衍生的神经元，以在体外研究JS的发病机理并制定治疗策略。