Generation of a human induced pluripotent stem cell (iPSC) line from a Bernard-Soulier syndrome patient with the mutation p.Asn45Ser in the GPIX gene

Stem Cell Res. 2016 Nov;17(3):603-606. doi: 10.1016/j.scr.2016.11.012. Epub 2016 Nov 8.

Abstract

Bernard Soulier Syndrome (BSS) is an inherited rare platelet disorder characterized by mutations in the platelet glycoprotein complex GPIb-IX-V. We generated an induced pluripotent stem cell (iPSC) line from a BSS patient with a mutation p.Asn45Ser in the GPIX locus (BSS2-PBMC-iPS4F24). Peripheral blood mononuclear cells were reprogrammed using non-integrative viral transduction. Characterization of BSS2-PBMC-iPS4F24 included mutational analysis of GPIX locus, analysis of conventional pluripotency-associated factors at mRNA and protein level and in vitro and in vivo differentiation studies. This iPSC line will provide a powerful tool to study the biology of BSS disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Base Sequence
  • Bernard-Soulier Syndrome / genetics
  • Bernard-Soulier Syndrome / pathology*
  • Cell Differentiation
  • Cell Line
  • Cellular Reprogramming
  • DNA Mutational Analysis
  • Embryoid Bodies / cytology
  • Embryoid Bodies / metabolism
  • Female
  • Humans
  • Induced Pluripotent Stem Cells / cytology*
  • Induced Pluripotent Stem Cells / metabolism
  • Induced Pluripotent Stem Cells / transplantation
  • Karyotype
  • Leukocytes, Mononuclear / cytology
  • Mice
  • Mice, SCID
  • Platelet Glycoprotein GPIb-IX Complex / genetics*
  • Polymorphism, Single Nucleotide
  • Teratoma / pathology
  • Transcription Factors / genetics
  • Transcription Factors / metabolism

Substances

  • Platelet Glycoprotein GPIb-IX Complex
  • Transcription Factors
  • adhesion receptor