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

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.

journal_name

Stem Cell Reports

journal_title

Stem cell reports

authors

Karch CM,Kao AW,Karydas A,Onanuga K,Martinez R,Argouarch A,Wang C,Huang C,Sohn PD,Bowles KR,Spina S,Silva MC,Marsh JA,Hsu S,Pugh DA,Ghoshal N,Norton J,Huang Y,Lee SE,Seeley WW,Theofilas P,Grinberg LT,Moreno F

doi

10.1016/j.stemcr.2019.09.006

subject

Has Abstract

pub_date

2019-11-12 00:00:00

pages

939-955

issue

5

issn

2213-6711

pii

S2213-6711(19)30335-2

journal_volume

13

pub_type

杂志文章

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