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Stem Cell Reports ; 13(5): 939-955, 2019 11 12.
Artigo em Inglês | MEDLINE | ID: mdl-31631020

RESUMO

Primary tauopathies are characterized neuropathologically by inclusions containing abnormal forms of the microtubule-associated protein tau (MAPT) and clinically by diverse neuropsychiatric, cognitive, and motor impairments. Autosomal dominant mutations in the MAPT gene cause heterogeneous forms of frontotemporal lobar degeneration with tauopathy (FTLD-Tau). Common and rare variants in the MAPT gene increase the risk for sporadic FTLD-Tau, including progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD). We generated a collection of fibroblasts from 140 MAPT mutation/risk variant carriers, PSP, CBD, and cognitively normal controls; 31 induced pluripotent stem cell (iPSC) lines from MAPT mutation carriers, non-carrier family members, and autopsy-confirmed PSP patients; 33 genome engineered iPSCs that were corrected or mutagenized; and forebrain neural progenitor cells (NPCs). Here, we present a resource of fibroblasts, iPSCs, and NPCs with comprehensive clinical histories that can be accessed by the scientific community for disease modeling and development of novel therapeutics for tauopathies.


Assuntos
Células-Tronco Pluripotentes Induzidas/patologia , Tauopatias/patologia , Linhagem Celular , Fibroblastos/metabolismo , Fibroblastos/patologia , Edição de Genes , Humanos , Células-Tronco Pluripotentes Induzidas/metabolismo , Mutação , Células-Tronco Neurais/metabolismo , Células-Tronco Neurais/patologia , Neurogênese , Neurônios/metabolismo , Neurônios/patologia , Tauopatias/genética , Proteínas tau/genética
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