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|