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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

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

Original languageEnglish
JournalStem Cell Research
Volume17
Issue number3
Pages (from-to)564-567
Number of pages4
ISSN1873-5061
DOIs
Publication statusPublished - 20 Oct 2016

ID: 49632726