Derivation of FSHD1 affected human embryonic stem cell line Genea096

Stem Cell Res. 2016 Mar;16(2):531-3. doi: 10.1016/j.scr.2016.02.001. Epub 2016 Feb 11.

Abstract

The Genea096 human embryonic stem cell line was derived from a donated, fully commercially consented ART blastocyst, carrying a deletion in 4q35 with only 6 D4Z4 repeats by PGD linkage analysis, indicative of FSHD1. Following ICM outgrowth on inactivated human feeders, karyotype was confirmed as 46, XX by CGH and STR analysis demonstrated a female Allele pattern. The hESC line had pluripotent cell morphology, 64% of cells expressed Nanog, 93% Oct4, 58% Tra1-60 and 93% SSEA4 and a Pluritest Pluripotency score of 39.41, Novelty of 1.25. The cell line was negative for Mycoplasma and visible contamination.

MeSH terms

  • Alleles
  • Blastocyst / cytology
  • Cells, Cultured
  • Comparative Genomic Hybridization
  • Female
  • Gene Deletion
  • Human Embryonic Stem Cells / cytology*
  • Human Embryonic Stem Cells / metabolism
  • Humans
  • Karyotype
  • Microsatellite Repeats / genetics
  • Microscopy, Fluorescence
  • Muscular Dystrophy, Facioscapulohumeral / genetics
  • Muscular Dystrophy, Facioscapulohumeral / pathology*
  • Transcription Factors / metabolism

Substances

  • Transcription Factors