Generation of KCL036 research grade human embryonic stem cell line carrying a mutation in the HTT gene

Stem Cell Res. 2016 Mar;16(2):345-8. doi: 10.1016/j.scr.2016.02.026. Epub 2016 Feb 10.

Abstract

The KCL036 human embryonic stem cell line was derived from an embryo donated for research that carried an autosomal dominant mutation affecting one allele of the HTT gene encoding huntingtin (38 trinucleotide repeats; 14 for the normal allele). The ICM was isolated using laser microsurgery and plated on γ-irradiated human foreskin fibroblasts. Both the derivation and cell line propagation were performed in an animal product-free environment. Pluripotent state and differentiation potential were confirmed by in vitro and in vivo assays.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Cell Differentiation
  • Cells, Cultured
  • Cellular Reprogramming
  • Comparative Genomic Hybridization
  • Embryo, Mammalian / cytology
  • Fertilization in Vitro
  • Genotype
  • Human Embryonic Stem Cells / cytology*
  • Human Embryonic Stem Cells / metabolism
  • Humans
  • Huntingtin Protein / genetics*
  • Karyotype
  • Male
  • Microscopy, Fluorescence
  • Pedigree
  • Polymorphism, Genetic
  • Transcription Factors / genetics
  • Transcription Factors / metabolism
  • Trinucleotide Repeats / genetics
  • Troponin T / metabolism

Substances

  • HTT protein, human
  • Huntingtin Protein
  • TNNT2 protein, human
  • Transcription Factors
  • Troponin T