SCIENTIFIC LITERATURE · MED

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.

Nimsanor N, Jørring I, Rasmussen MA, Clausen C, Mau-Holzmann UA, Kitiyanant N, Nielsen JE, Nielsen TT, Hyttel P, Holst B, Schmid B.

Stem Cell Res · 2016-10-20

DOI: 10.1016/j.scr.2016.10.006PMID: 27789411

Check source for accessResearch Support, Non-U.S. Gov't; Journal ArticleOriginal source ↗

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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.

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