%0 Journal Article
%T 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.
%A Hatim O
%A Xu M
%A Pavlinov I
%A Linask K
%A Beers J
%A Zou J
%A Liu C
%A Rodems S
%A Baumgärtel K
%A Gilbert MA
%A Spinner NB
%A Chen C
%A Zheng W
%J Stem Cell Res
%V 77
%N 0
%D 2024 Jun 29
%M 38703666
%F 1.587
%R 10.1016/j.scr.2024.103429
%X 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.