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

Academic 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.
  • Authors

    Published In

  • Stem Cell Research  Journal
  • Digital Object Identifier (doi)

    Author List

  • Yang S; Cheng YS; Li R; Pradhan M; Hong J; Beers J; Zou J; Liu C; Might M; Rodems S
  • Volume

  • 39