An induced pluripotent stem cell line (TRNDi010-C) from a patient carrying a homozygous p.R401X mutation in the NGLY1 gene

Shu Yang; Yu-Shan Cheng; Rong Li; Manisha Pradhan; Junjie Hong; Jeanette Beers; Jizhong Zou; Chengyu Liu; Matt Might; Steven Rodems; Wei Zheng

Stem Cell Research (Aug 2019)

An induced pluripotent stem cell line (TRNDi010-C) from a patient carrying a homozygous p.R401X mutation in the NGLY1 gene

Shu Yang,
Yu-Shan Cheng,
Rong Li,
Manisha Pradhan,
Junjie Hong,
Jeanette Beers,
Jizhong Zou,
Chengyu Liu,
Matt Might,
Steven Rodems,
Wei Zheng

Affiliations

Shu Yang: 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
Rong Li: 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
Junjie Hong: 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
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
Matt Might: University of Alabama at Birmingham, Birmingham, AL, USA
Steven Rodems: Retrophin, Inc., 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, MSC: 3375, Bethesda, MD 20892, USA.

Journal volume & issue: Vol. 39

Abstract

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NGLY1 deficiency is a rare inherited disorder caused by mutations in the NGLY1 gene encoding N-glycanase 1 that is a hydrolase for N-linked glycosylated proteins. An induced pluripotent stem cell (iPSC) line was generated from the dermal fibroblasts of a 16-year-old patient with homozygous mutation of p.R401X (c.1201 A>T) in the NGLY1 gene. Our iPSC model offers a useful resource to study the disease pathophysiology and to develop therapeutics for treatment of NGLY1 patients.

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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