Derivation of Huntington Disease affected Genea017 human embryonic stem cell line

Stem Cell Res. 2016 Mar;16(2):493-6. doi: 10.1016/j.scr.2016.02.007. Epub 2016 Feb 3.

Abstract

The Genea017 human embryonic stem cell line was derived from a donated, fully commercially consented ART blastocyst, carrying Htt gene CAG expansion of 40 repeats, indicative of Huntington Disease. Following ICM outgrowth on inactivated human feeders, genetic analysis confirmed a 46, XY karyotype and male allele pattern through CGH and STR analysis. The hESC line had pluripotent cell morphology, 87% of cells expressed Nanog, 95% Oct4, 88% Tra1-60 and 99% SSEA4, gave a PluriTest pluripotency score of 34.74, novelty of 1.27, demonstrated alkaline phosphatase activity and tri-lineage teratoma formation. The cell line was negative for Mycoplasma and visible contamination.

MeSH terms

  • Alleles
  • Animals
  • Cells, Cultured
  • Comparative Genomic Hybridization
  • Embryo, Mammalian / cytology*
  • Genotype
  • Histocompatibility Testing
  • Human Embryonic Stem Cells / cytology*
  • Human Embryonic Stem Cells / metabolism
  • Human Embryonic Stem Cells / transplantation
  • Humans
  • Huntingtin Protein / genetics
  • Huntington Disease / metabolism
  • Huntington Disease / pathology*
  • Karyotype
  • Male
  • Mice
  • Mice, SCID
  • Microsatellite Repeats / genetics
  • Microscopy, Fluorescence
  • Teratoma / metabolism
  • Teratoma / pathology
  • Transcription Factors / metabolism
  • Transplantation, Heterologous

Substances

  • HTT protein, human
  • Huntingtin Protein
  • Transcription Factors