Lymphoblast-derived integration-free iPS cell line from a female 67-year-old Alzheimer's disease patient with TREM2 (R47H) missense mutation

Stem Cell Res. 2016 Nov;17(3):553-555. doi: 10.1016/j.scr.2016.10.005. Epub 2016 Oct 20.

Abstract

Human lymphoblast cells from a female patient diagnosed with Alzheimer's disease (AD) possessing the missense mutation TREM2 p.R47H were used to generate integration-free induced pluripotent stem cells (iPSCs) employing episomal plasmids expressing OCT4, SOX2, NANOG, LIN28, c-MYC and L-MYC. The iPSCs retained the TREM2 mutation, and were defined as pluripotent based on (i) expression of pluripotent-associated markers, (ii) embryoid body-based differentiation into cell types representative of the three germ layers and (iii) the similarity between the transcriptomes of the iPSC line and the human embryonic stem cell line H1 with a Pearson correlation of 0.961.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alzheimer Disease / metabolism
  • Alzheimer Disease / pathology*
  • Base Sequence
  • Cell Differentiation
  • Cell Line
  • Cellular Reprogramming
  • Embryoid Bodies / cytology
  • Embryoid Bodies / metabolism
  • Female
  • Humans
  • Induced Pluripotent Stem Cells / cytology*
  • Induced Pluripotent Stem Cells / metabolism
  • Karyotype
  • Lymphocytes / cytology
  • Membrane Glycoproteins / genetics*
  • Microscopy, Fluorescence
  • Mutation, Missense
  • Oligonucleotide Array Sequence Analysis
  • Plasmids / genetics
  • Plasmids / metabolism
  • Receptors, Immunologic / genetics*
  • Transcription Factors / genetics
  • Transcription Factors / metabolism

Substances

  • Membrane Glycoproteins
  • Receptors, Immunologic
  • TREM2 protein, human
  • Transcription Factors