Induced pluripotent stem cells (iPSCs) derived from a symptomatic carrier of a S305I mutation in the microtubule-associated protein tau (MAPT)-gene causing frontotemporal dementia

Stem Cell Res. 2016 Nov;17(3):564-567. doi: 10.1016/j.scr.2016.10.006. Epub 2016 Oct 20.

Abstract

Frontotemporal dementia with parkinsonism linked to chromosome 17q21.2 (FTDP-17) is an autosomal-dominant neurodegenerative disorder. Mutations in the gene coding the microtubule-associated protein tau (MAPT) can cause FTDP-17 but the underlying mechanisms of the disease are still unknown. Induced pluripotent stem cells (iPSCs) hold great promise to model FTDP-17 as such cells can be differentiated in vitro to the required neuronal cell type. Here, we report the generation of iPSCs from a 44-year-old symptomatic woman carrying a S305I mutation in the MAPT-gene.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Cell Differentiation
  • Cell Line
  • Cellular Reprogramming
  • Female
  • Fibroblasts / cytology
  • Frontotemporal Dementia / genetics
  • Frontotemporal Dementia / pathology*
  • Genotype
  • Humans
  • Induced Pluripotent Stem Cells / cytology*
  • Induced Pluripotent Stem Cells / metabolism
  • Karyotype
  • Mesoderm / cytology
  • Mesoderm / metabolism
  • Microscopy, Fluorescence
  • Plasmids / genetics
  • Plasmids / metabolism
  • Polymorphism, Single Nucleotide
  • Sequence Analysis, DNA
  • Skin / cytology
  • Transcription Factors / genetics
  • Transcription Factors / metabolism
  • tau Proteins / genetics*

Substances

  • MAPT protein, human
  • Transcription Factors
  • tau Proteins