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.
Highlights
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
NGLY1 deficiency, known as NGLY1-related congenital disorder of deglycosylation, is a rare autosomal recessive disorder caused by mutations in the NGLY1 gene which encodes a specialized enzyme called N-glycanase that removes N-linked glycan from glycosylated proteins within the body
A human dermal fibroblast was derived from a 16-year-old female patient (GM26612, Coriell Institute) with a homozygous nonsense mutation of p.R401X (c.1201A > T) in exon 8 of the NGLY1 gene (3p24.2) (Enns et al, 2014; Need et al, 2012)
Summary
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. A human dermal fibroblast was derived from a 16-year-old female patient (GM26612, Coriell Institute) with a homozygous nonsense mutation of p.R401X (c.1201A > T) in exon 8 of the NGLY1 gene (3p24.2) (Enns et al, 2014; Need et al, 2012).
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