Generation of an induced pluripotent stem cell line (TRNDi002-B) from a patient carrying compound heterozygous p.Q208X and p.G310G mutations in the NGLY1 gene

Stem Cell Res. 2019 Jan:34:101362. doi: 10.1016/j.scr.2018.101362. Epub 2018 Dec 5.

Abstract

NGLY1 deficiency is a rare genetic disease caused by mutations in the NGLY1 gene that encodes N-glycanase 1. The disease phenotype in patient cells is unclear. A human induced pluripotent stem cell (iPSC) line was generated from skin dermal fibroblasts of a patient with NGLY1 deficiency that has compound heterozygous mutations of a p.Q208X variant (c.622C > T) in exon 4 and a p.G310G variant (c.930C > T) in exon 6 of the NGLY1 gene. This iPSC line offers a useful resource to study the disease pathophysiology and a cell-based model for drug development to treat NGLY1 deficiency.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Aged, 80 and over
  • Cell Culture Techniques / methods*
  • Cell Line
  • Female
  • Heterozygote
  • Humans
  • Induced Pluripotent Stem Cells / pathology*
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase / genetics*

Substances

  • NGLY1 protein, human
  • Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase