Generation of induced pluripotent stem cell lines TRNDi037-A and TRNDi038-A from two patients with Alagille syndrome carrying heterozygous JAG1 mutations

Elena F Evans; Guibin Chen; Ivan Pavlinov; Xiuli Huang; Kaari Linask; Chengyu Liu; Alexander Rodriguez Lopez; Melissa A Gilbert; Nancy B Spinner; Steven Rodemse; Karsten Baumgärtele; Catherine Z Chen; Jizhong Zou; Wei Zheng

doi:10.1016/j.scr.2024.103634

Generation of induced pluripotent stem cell lines TRNDi037-A and TRNDi038-A from two patients with Alagille syndrome carrying heterozygous JAG1 mutations

Stem Cell Res. 2024 Dec 17:82:103634. doi: 10.1016/j.scr.2024.103634. Online ahead of print.

Authors

Affiliations

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

PMID: 39719802
DOI: 10.1016/j.scr.2024.103634

Abstract

Human induced pluripotent stem cell (iPSC) lines TRNDi037-A and TRNDi038-A were generated from the lymphoblastoid cell lines (LCL) of two patients with different heterozygous JAG1 variants resulting in Alagille syndrome (ALGS). ALGS is a rare genetic disease of haploinsufficiency that affects the formation of the bile duct, in addition to other symptoms. These ALGS iPSC lines can be used to model ALGS and aid in the identification of therapeutics to treat patients with ALGS.

Published by Elsevier B.V.