Author information
1National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.
2iPSC Core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
3Transgenic Core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
4Travere Therapeutics, 3611 Valley Centre Drive, Suite 300, San Diego, CA, USA.
5Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
6National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA. Electronic address: wzheng@mail.nih.gov.
Abstract
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.