Derivation of FSHD1 affected human embryonic stem cell line Genea050

Stem Cell Res. 2016 Mar;16(2):503-6. doi: 10.1016/j.scr.2016.02.023. Epub 2016 Feb 11.

Abstract

The Genea050 human embryonic stem cell line was derived from a donated, fully commercially consented ART blastocyst, carrying a deletion in 4q35 with only 5 D4Z4 repeats by PGD linkage analysis, indicative of FSHD1. 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, 92% of cells expressed Nanog, 97% Oct4, 79% Tra1-60 and 99% SSEA4, gave a Pluritest Pluripotency score of 25.45, Novelty of 1.45 demonstrated Alkaline Phosphatase activity and tri-lineage teratoma formation. The cell line was negative for Mycoplasma and visible contamination.

MeSH terms

  • Animals
  • Cells, Cultured
  • Comparative Genomic Hybridization
  • Embryo, Mammalian / cytology
  • Gene Deletion
  • Human Embryonic Stem Cells / cytology*
  • Human Embryonic Stem Cells / metabolism
  • Human Embryonic Stem Cells / transplantation
  • Humans
  • Karyotype
  • Male
  • Mice
  • Microsatellite Repeats / genetics
  • Microscopy, Fluorescence
  • Muscular Dystrophy, Facioscapulohumeral / genetics
  • Muscular Dystrophy, Facioscapulohumeral / pathology*
  • Teratoma / metabolism
  • Teratoma / pathology
  • Transcription Factors / metabolism
  • Transplantation, Heterologous

Substances

  • Transcription Factors