A Comprehensive Resource for Induced Pluripotent Stem Cells from Patients with Primary Tauopathies

原发性 Tauopathies 患者诱导性多能干细胞的综合资源

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作者:Celeste M Karch, Aimee W Kao, Anna Karydas, Khadijah Onanuga, Rita Martinez, Andrea Argouarch, Chao Wang, Cindy Huang, Peter Dongmin Sohn, Kathryn R Bowles, Salvatore Spina, M Catarina Silva, Jacob A Marsh, Simon Hsu, Derian A Pugh, Nupur Ghoshal, Joanne Norton, Yadong Huang, Suzee E Lee, William W

Abstract

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.

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