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  • Title: 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.
    Author: Nimsanor N, Jørring I, Rasmussen MA, Clausen C, Mau-Holzmann UA, Kitiyanant N, Nielsen JE, Nielsen TT, Hyttel P, Holst B, Schmid B.
    Journal: Stem Cell Res; 2016 Nov; 17(3):564-567. PubMed ID: 27789411.
    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.
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