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
Summary
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 mutation, p.Cys682Leufs*7 (c.2044dup), in the JAG1 gene provides a means of studying the disease and developing novel therapeutics towards patient treatment. Published by Elsevier B.V.
| Authors | Hatim O, Pavlinov I, Xu M, Linask K, Beers J, Liu C, Baumgärtel K, Gilbert M, Spinner N, Chen C, Zou J, Zheng W |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2023 Dec;73:103231 |
| PubMed | 37890331 |
| PubMed Central | PMC10842201 |
| DOI | 10.1016/j.scr.2023.103231 |