Article
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.
Stem cell research - 1 Dec 2023
Hatim Omer, Pavlinov Ivan, Xu Miao, Linask Kaari, Beers Jeanette, Liu Chengyu, Baumgärtel Karsten, Gilbert Melissa, Spinner Nancy, Chen Catherine, Zou Jizhong, Zheng Wei
Abstract excerpt
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 prenatal onset for some of the features. The generation of this iPSC line (TRNDi032-A) carrying a heterozygous...
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