Establishment of a human induced pluripotent stem cell line from a patient with Alagille syndrome carrying heterozygous mutation in JAG1 gene

Abstract

Alagille syndrome (ALGS) is a complex rare genetic disorder that involves multiple organ systems. We established an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells of a one-year-old boy with Alagille syndrome carrying a heterozygous mutation c.234C > A (p.C78X) in JAG1 gene. This iPSC line was free of exogenous gene, expressed pluripotency markers, exhibited differentiation potential, have normal karyotype and harbored the same mutations found in the patient. This human induced pluripotent stem cell line can be used for in vitro disease modeling and therapy testing.