Generation of an Alagille syndrome (ALGS) patient-derived induced pluripotent stem cell line (TRNDi032-A) carrying a heterozygous mutation (p.Cys682Leufs*7) in the JAG1 gene

Omer Hatim; Ivan Pavlinov; Miao Xu; Kaari Linask; Jeanette Beers; Chengyu Liu; Karsten Baumgärtel; Melissa Gilbert; Nancy Spinner; Catherine Chen; Jizhong Zou; Wei Zheng

Stem Cell Research (Dec 2023)

Generation of an Alagille syndrome (ALGS) patient-derived induced pluripotent stem cell line (TRNDi032-A) carrying a heterozygous mutation (p.Cys682Leufs*7) in the JAG1 gene

Omer Hatim,
Ivan Pavlinov,
Miao Xu,
Kaari Linask,
Jeanette Beers,
Chengyu Liu,
Karsten Baumgärtel,
Melissa Gilbert,
Nancy Spinner,
Catherine Chen,
Jizhong Zou,
Wei Zheng

Affiliations

Omer Hatim: National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA
Ivan Pavlinov: National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA
Miao Xu: National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA
Kaari Linask: iPSC Core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA
Jeanette Beers: iPSC Core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA
Chengyu Liu: Transgenic Core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA
Karsten Baumgärtel: Travere Therapeutics, 3611 Valley Centre Drive, Suite 300, San Diego, CA, USA
Melissa Gilbert: Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA
Nancy Spinner: Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA
Catherine Chen: National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA
Jizhong Zou: iPSC Core, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD, USA
Wei Zheng: National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA; Corresponding author.

Journal volume & issue: Vol. 73
p. 103231

Abstract

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Alagille syndrome (ALGS) is an autosomal dominant, multisystemic disorder due to haploinsufficiency in either the JAG1 gene (ALGS type 1) or the NOTCH2 gene (ALGS type 2). The disease has been difficult to diagnose and treat due to its muti-system clinical presentation, variable expressivity, and prenatal onset for some of the features. The generation of this iPSC line (TRNDi032-A) carrying a heterozygous mutation, p.Cys682Leufs*7 (c.2044dup), in the JAG1 gene provides a means of studying the disease and developing novel therapeutics towards patient treatment.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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