Derivation of DM2 affected human embryonic stem cell line Genea066

Stem Cell Res. 2016 Mar;16(2):497-9. doi: 10.1016/j.scr.2016.02.002. Epub 2016 Feb 11.

Abstract

The Genea066 human embryonic stem cell line was derived from a donated, fully commercially consented ART blastocyst, carrying expansion of CCTG repeats in exon 1 of the ZNF9 gene, indicative of Myotonic Dystrophy Type 2 (DM2). Following ICM outgrowth on inactivated human feeders, karyotype was confirmed as 46, XY and STR analysis demonstrated a male Allele pattern. The hESC line had pluripotent cell morphology, 88% of cells expressed Nanog, 97% Oct4, 80% Tra1-60 and 99% SSEA4 and gave a Pluritest Pluripotency score of 31.3, Novelty of 1.22. The cell line was negative for Mycoplasma and visible contamination.

MeSH terms

  • Alleles
  • Blastocyst / cytology
  • Cells, Cultured
  • Comparative Genomic Hybridization
  • Genotype
  • Human Embryonic Stem Cells / cytology*
  • Human Embryonic Stem Cells / metabolism
  • Humans
  • Karyotype
  • Male
  • Microscopy, Fluorescence
  • Myotonic Dystrophy / metabolism
  • Myotonic Dystrophy / pathology*
  • RNA-Binding Proteins / genetics
  • Transcription Factors / genetics
  • Transcription Factors / metabolism

Substances

  • CNBP protein, human
  • RNA-Binding Proteins
  • Transcription Factors