biostudies-literatureHatim ONational Center for Advancing Translational SciencesIntramural NIH HHS103429https://www.ebi.ac.uk/biostudies/studies/S-EPMC11144073biostudies-literatureUnknown77Alagille 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 towards patient treatment.Stem cell researchGeneration of an Alagille Syndrome (ALGS) patient-derived induced pluripotent stem cell line (TRNDi036-A) carrying a heterozygous mutation (p.Cys693*) in the JAG1 gene.PMC11144073ZIA TR000018Pavlinov IZou JXu MGilbert MARodems SChen CZheng WHatim OBeers JLinask KSpinner NBLiu CBaumgartel KfalseGeneration of an Alagille Syndrome (ALGS) patient-derived induced pluripotent stem cell line (TRNDi036-A) carrying a heterozygous mutation (p.Cys693*) in the JAG1 gene.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 towards patient treatment.2024-01-01T00:00:00Z2024 Jun2026-06-03T03:49:43.997Z2026-04-24T03:09:25.955ZS-EPMC111440733870366610.1016/j.scr.2024.103429