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

Brianna M. Brooks; Manisha Pradhan; Yu-Shan Cheng; Kirill Gorshkov; Atena Farkhondeh; Catherine Z. Chen; Jeanette Beers; Chengyu Liu; Karsten Baumgaertel; Steven Rodems; Wei Zheng

Stem Cell Research (Jul 2021)

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

Brianna M. Brooks,
Manisha Pradhan,
Yu-Shan Cheng,
Kirill Gorshkov,
Atena Farkhondeh,
Catherine Z. Chen,
Jeanette Beers,
Chengyu Liu,
Karsten Baumgaertel,
Steven Rodems,
Wei Zheng

Affiliations

Brianna M. Brooks: National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA
Manisha Pradhan: National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA
Yu-Shan Cheng: National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA
Kirill Gorshkov: National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA
Atena Farkhondeh: National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA
Catherine Z. Chen: National Center for Advancing Translational Sciences, 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 Baumgaertel: Travere Therapeutics, San Diego, CA, USA
Steven Rodems: Travere Therapeutics, San Diego, CA, USA
Wei Zheng: National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA; Corresponding author at: National Center for Advancing Translational Sciences, National Institutes of Health, 9800 Medical Center Drive, Bethesda, MD 20892, USA.

Journal volume & issue: Vol. 54
p. 102447

Abstract

Read online

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.

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

About the journal