Derivation of human embryonic stem cell from spinal muscular atrophy patient

Stem Cell Res. 2016 Mar;16(2):216-9. doi: 10.1016/j.scr.2015.12.030. Epub 2016 Jan 3.

Abstract

We established a human embryonic stem cell (hESC) line chHES-427 from the abnormal embryo carrying homozygous deletion of exon 7 of survival motor neuron gene (SMN). This cell line maintained a normal karyotype 46, XX during long-term culture. Further characteristic analysis suggested that the cells expressed the pluripotency-related markers and had the capacity to differentiate into the derivatives from the three germ layers in vitro.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Differentiation
  • Cell Line
  • Embryo, Mammalian / cytology
  • Exons
  • Female
  • Flow Cytometry
  • Human Embryonic Stem Cells / cytology*
  • Human Embryonic Stem Cells / metabolism
  • Humans
  • Karyotype
  • Microscopy, Fluorescence
  • Muscular Atrophy, Spinal / pathology*
  • Real-Time Polymerase Chain Reaction
  • Survival of Motor Neuron 1 Protein / genetics
  • Transcription Factors / genetics
  • Transcription Factors / metabolism

Substances

  • Survival of Motor Neuron 1 Protein
  • Transcription Factors