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

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

Stem Cell Research (Jun 2024)

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

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

Affiliations

Omer Hatim: 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
Ivan Pavlinov: 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
Jizhong Zou: 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
Steven Rodems: Travere Therapeutics, 3611 Valley Centre Drive, Suite 300, San Diego, CA, USA
Karsten Baumgärtel: Travere Therapeutics, 3611 Valley Centre Drive, Suite 300, San Diego, CA, USA
Melissa A. Gilbert: Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA
Nancy B. 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
Wei Zheng: National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA; Corresponding author.

Journal volume & issue: Vol. 77
p. 103429

Abstract

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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.

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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