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
Summary
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. Published by Elsevier B.V.
| Authors | Hatim O, Xu M, Pavlinov I, Linask K, Beers J, Zou J, Liu C, Rodems S, Baumgärtel K, Gilbert MA, Spinner NB, Chen C, Zheng W |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Jun;77:103429 |
| PubMed | 38703666 |
| PubMed Central | PMC11144073 |
| DOI | 10.1016/j.scr.2024.103429 |