Generation of human embryonic stem cell line chHES-458 from abnormal embryos with HTT gene mutation

Stem Cell Res. 2016 Nov;17(3):627-629. doi: 10.1016/j.scr.2016.11.002. Epub 2016 Nov 5.

Abstract

The human embryonic stem cell (hESC) line chHES-458 was derived from a abnormal blastocyst carrying the expanded CAG repeat mutation of the HTT gene that would lead to Huntington disease. This cell line maintained a normal karyotype 46, XX during long-term culture and displayed pluripotent characteristics, including expression of pluripotency-related transcription factors and capacity of forming well-differentiated three germ layers after being injected into the SCID mice.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Blastocyst / cytology
  • Cell Differentiation
  • Cell Line
  • Cellular Reprogramming
  • Embryoid Bodies / cytology
  • Embryoid Bodies / metabolism
  • Female
  • Human Embryonic Stem Cells / cytology*
  • Human Embryonic Stem Cells / metabolism
  • Human Embryonic Stem Cells / transplantation
  • Humans
  • Huntingtin Protein / genetics*
  • Huntington Disease / genetics
  • Huntington Disease / pathology*
  • Karyotype
  • Mice
  • Mice, SCID
  • Microscopy, Fluorescence
  • Plasmids / genetics
  • Plasmids / metabolism
  • Teratoma / pathology
  • Transcription Factors / genetics
  • Transcription Factors / metabolism
  • Trinucleotide Repeats / genetics

Substances

  • HTT protein, human
  • Huntingtin Protein
  • Transcription Factors