Establishment of a human induced pluripotent stem cell line (SDQLCHi037-A) from a patient with Alagille syndrome carrying heterozygous mutation in JAG1 gene.

Abstract 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.