Generation of a GDE heterozygous mutation human embryonic stem cell line WAe001-A-14 by CRISPR/Cas9 editing

Stem Cell Res. 2018 Mar:27:38-41. doi: 10.1016/j.scr.2017.12.009. Epub 2017 Dec 13.

Abstract

Glycogen debranching enzyme (GDE) plays a critical role in glycogenolysis. Mutations in the GDE gene are associated with a metabolic disease known as glycogen storage disease type III (GSDIII). We generated a mutant GDE human embryonic stem cell line, WAe001-A-14, using the CRISPR/Cas9 editing system. This cell line contains a 24-nucleotide deletion within exon-13 of GDE, resulting in 8 amino acids (TRLGISSL) missing of the GDE protein from amino acid position 567 to 575. The WAe001-A-14 cell line maintains typical stem cell morphology, pluripotency and in vitro differentiation potential, and a normal karyotype.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • CRISPR-Cas Systems / genetics*
  • Cell Line
  • Glycogen Debranching Enzyme System / genetics*
  • Heterozygote
  • Human Embryonic Stem Cells / metabolism*
  • Humans
  • Mutation / genetics
  • Real-Time Polymerase Chain Reaction

Substances

  • Glycogen Debranching Enzyme System