İndüklenmiş pluripotent kök hücreler (iPSC'ler), mikrotübüle bağlı protein tau (MAPT)-geninde s305I mutasyonunun semptomatik bir taşıyıcısından türetilmiştir ve frontotemporal demansa neden olur.

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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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