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

Year: 2019

Type: article

Abstract: 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.

Source: Stem Cell Research

DOI: 10.1016/j.scr.2019.101496

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

Institutions: National Institutes of Health, National Center for Advancing Translational Sciences, National Institutes of Health Clinical Center, National Heart, Lung, and Blood Institute, University of Alabama at Birmingham

Language: English

Topic: Pluripotent Stem Cells Research

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,100

Funders: National Institutes of Health, National Center for Advancing Translational Sciences

Awards: G3494643047, Drug Repurposing Screening for Rare and Neglected Diseases

OpenAlex ID: W2962580000

FWCI: 0.146

Cites: 5

Cited by: 5

Related to: 10