Derivation of DM1 affected human embryonic stem cell line Genea067

Stem Cell Res. 2016 Mar;16(2):437-9. doi: 10.1016/j.scr.2016.02.014. Epub 2016 Feb 11.

Abstract

The Genea067 human embryonic stem cell line was derived from a donated, fully commercially consented ART blastocyst, carrying expansion of CTG repeats in the DMPK gene, indicative of Myotonic Dystrophy Type 1 (DM1). 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, 85% of cells expressed Nanog, 97% Oct4, 73% Tra1-60 and 98% SSEA4 and gave a Pluritest Pluripotency score of 25.75, Novelty of 1.46. The cell line was negative for Mycoplasma and visible contamination.

MeSH terms

  • Alleles
  • Blastocyst / cytology*
  • Cells, Cultured
  • Cellular Reprogramming
  • Comparative Genomic Hybridization
  • Flow Cytometry
  • Human Embryonic Stem Cells / cytology*
  • Human Embryonic Stem Cells / metabolism
  • Humans
  • Karyotype
  • Male
  • Microsatellite Repeats / genetics
  • Microscopy, Fluorescence
  • Myotonic Dystrophy / genetics
  • Myotonic Dystrophy / metabolism
  • Myotonic Dystrophy / pathology*
  • Myotonin-Protein Kinase / genetics
  • Transcription Factors / genetics
  • Transcription Factors / metabolism

Substances

  • DMPK protein, human
  • Transcription Factors
  • Myotonin-Protein Kinase