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


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 by Elsevier B.V.

Authors Yang S, Cheng YS, Li R, Pradhan M, Hong J, Beers J, Zou J, Liu C, Might M, Rodems S, Zheng W
Journal Stem cell research
Publication Date 2019 Aug;39:101496
PubMed 31326749
PubMed Central PMC6910241
DOI 10.1016/j.scr.2019.101496

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