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

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

  • Natakarn Nimsanor
  • Ida Jørring
  • Mikkel A. Rasmussen
  • Christian Clausen
  • Ulrike A Mau-Holzmann
  • Narisorn Kitiyanant
  • Nielsen, Jørgen Erik
  • Troels T Nielsen
  • Poul Hyttel
  • Bjørn Holst
  • Benjamin Schmid

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.

OriginalsprogEngelsk
TidsskriftStem Cell Research
Vol/bind17
Udgave nummer3
Sider (fra-til)564-567
Antal sider4
ISSN1873-5061
DOI
StatusUdgivet - nov. 2016

ID: 172816652