[PDF][PDF] A comprehensive resource for induced pluripotent stem cells from patients with primary tauopathies

CM Karch, AW Kao, A Karydas, K Onanuga, R Martinez… - Stem cell reports, 2019 - cell.com
CM Karch, AW Kao, A Karydas, K Onanuga, R Martinez, A Argouarch, C Wang, C Huang
Stem cell reports, 2019cell.com
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 …
Summary
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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