Generation of an Alagille syndrome (ALGS) patient-derived induced pluripotent stem cell line (TRNDi032-A) carrying a heterozygous mutation (p.Cys682Leufs*7) in the JAG1 gene

Alagille syndrome (ALGS) is an autosomal dominant, multisystemic disorder due to haploinsufficiency in either the JAG1 gene (ALGS type 1) or the NOTCH2 gene (ALGS type 2). The disease has been difficult to diagnose and treat due to its muti-system clinical presentation, variable expressivity, and pr...

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Bibliographic Details
Main Authors: Omer Hatim, Ivan Pavlinov, Miao Xu, Kaari Linask, Jeanette Beers, Chengyu Liu, Karsten Baumgärtel, Melissa Gilbert, Nancy Spinner, Catherine Chen, Jizhong Zou, Wei Zheng
Format: Article
Language:English
Published: Elsevier 2023-12-01
Series:Stem Cell Research
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Online Access:http://www.sciencedirect.com/science/article/pii/S1873506123002179