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

Stem cell research - 1 Mar 2021

Wang Bin, Yang Lu, Li Yue, Gao Min, Zhang Haiyan, Yang Xiaomeng, Guan Jingyun, Liu Yi, Gai Zhongtao

Abstract excerpt

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...

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Identifiers

PMID: 33465531
DOI: 10.1016/j.scr.2021.102162

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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