Alagille syndrome is a complex multisystem autosomal dominant disorder that is caused by a defect in the Notch signaling pathway. We established an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells of a 3-month-old boy with Alagille syndrome carrying a heterozygous mutation c.1615C > T (p.Q539X) in JAG1 gene. This iPSC line was free of exogenous gene, expressed pluripotency markers, had normal karyotype, exhibited differentiation potential and harbored the same mutations found in the patient. This iPSC line offers a cell-based model for drug screening studies.

中文翻译：

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从携带JAG1基因杂合突变的Alagille综合征患者建立人诱导的多能干细胞系（SDQLCHi037-A）

Alagille综合征是由Notch信号通路缺陷引起的复杂的多系统常染色体显性遗传疾病。我们从一个3个月大的Alagille综合征男孩的外周血单核细胞中建立了诱导多能干细胞（iPSC）系，该男孩在JAG1基因中携带杂合突变c.1615C> T（p.Q539X）。该iPSC品系没有外源基因，表达了多能性标记，具有正常的核型，表现出分化潜能并具有与患者相同的突变。该iPSC系列为药物筛选研究提供了基于细胞的模型。