Generation of an isogenic, gene-corrected iPSC line from a symptomatic 59-year-old female patient with frontotemporal dementia caused by an R406W mutation in the microtubule associated protein tau (MAPT) gene

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

  • Natakarn Nimsanor
  • Ulla Poulsen
  • Mikkel A. Rasmussen
  • Christian Clausen
  • Ulrike A Mau-Holzmann
  • 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 MAPT (microtubule-associated protein tau) gene can cause FTDP-17, but the underlying pathomechanisms 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 cell type. Furthermore, gene-editing approaches allow generating isogenic gene-corrected controls that can beused as a very specific control. Here, we report the generation of genetically corrected iPSCs from a 59-year old female FTD-17 patient carrying an R406W mutation in the MAPT-gene.
OriginalsprogEngelsk
TidsskriftStem Cell Research
Vol/bind17
Udgave nummer3
Sider (fra-til)576-579
Antal sider4
ISSN1873-5061
DOI
StatusUdgivet - nov. 2016

ID: 172430210