An induced pluripotent stem cell line (NCATS-CL9075) from a patient carrying compound heterozygote mutations, p.R390P and p.L318P, in the NGLY1 gene

Academic Article

Abstract

  • NGLY1 deficiency is a rare disorder caused by mutations in the NGLY1 gene which codes for the highly conserved N-glycanase1 (NGLY1). This enzyme functions in cytosolic deglycosylation of N- linked glycoproteins. An induced pluripotent stem cell (iPSC) line was generated from the dermal fibroblasts of a 2-year-old patient carrying compound heterozygous mutations, p.R390P and p.L318P in the NGLY1 gene. This cell-based iPSC disease model provides a resource to study disease pathophysiology and to develop a cell-based disease model for drug development for NGLY1 patients.
  • Authors

    Published In

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

    Pubmed Id

  • 23983154
  • Author List

  • Pradhan M; Farkhondeh A; Cheng YS; Xu M; Beers J; Zou J; Liu C; Might M; Rodems S; Baumg√§rtel K
  • Volume

  • 54