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Generation of an Alagille Syndrome (ALGS) patient-derived induced pluripotent stem cell line (TRNDi036-A) carrying a heterozygous mutation (p.Cys693*) in the JAG1 gene.

Stem cell research - 1 Jun 2024

Hatim Omer, Xu Miao, Pavlinov Ivan, Linask Kaari, Beers Jeanette, Zou Jizhong, Liu Chengyu, Rodems Steven, Baumgärtel Karsten, Gilbert Melissa A, Spinner Nancy B, Chen Catherine, Zheng Wei

Abstract excerpt

Alagille syndrome (ALGS) is an autosomal dominant, multisystemic disorder due to haploinsufficiency in JAG1 or less frequently, mutations in NOTCH2. The disease has been difficult to diagnose and treat due to variable expression. The generation of this iPSC line (TRNDi036-A) carrying a heterozygous mutation (p.Cys693*) in the JAG1 gene provides a means of studying the disease and developing novel therapeutics...

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Identifiers

PMID: 38703666
DOI: 10.1016/j.scr.2024.103429
PMCID: PMC11144073

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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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Generation of an Alagille Syndrome (ALGS) patient-derived induced pluripotent stem cell line (TRNDi036-A) carrying a heterozygous mutation (p.Cys693*) in the JAG1 gene.PMID 38703666Read ↗

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