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Abstract Details
Generation of an induced pluripotent stem cell line (TRNDi031-A) from a patient with Alagille syndrome type 1 carrying a heterozygous p. C312X (c. 936 T > A) mutation in JAGGED-1
Stem Cell Res. 2021 Jun 24;54:102447. doi: 10.1016/j.scr.2021.102447. Online ahead of print.
Brianna M Brooks1, Manisha Pradhan1, Yu-Shan Cheng1, Kirill Gorshkov1, Atena Farkhondeh1, Catherine Z Chen1, Jeanette Beers2, Chengyu Liu3, Karsten Baumgaertel4, Steven Rodems4, Wei Zheng5
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, San Diego, CA, USA.
5National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA. Electronic address: wzheng@mail.nih.gov.
Abstract
Alagille syndrome (ALGS) is a rare autosomal dominant disorder caused by disruption of the Notch signaling pathway due to mutations in either JAGGED1 (JAG1) (ALGS type 1) or NOTCH2 (ALGS type 2). Loss of this signaling interferes with the development of many organs, but especially the liver. A human induced pluripotent stem cell (iPSC) line was generated from the fibroblasts of a patient with a p. C312X (c. 936 T > A) variant in JAG1. This iPSC line offers a valuable resource to study the disease pathophysiology and develop therapeutics to treat patients with ALGS.