Stem Cell Reports (Nov 2019)

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

  • 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. Seeley,
  • Panagiotis Theofilas,
  • Lea T. Grinberg,
  • Fermin Moreno,
  • Kathryn McIlroy,
  • Bradley F. Boeve,
  • Nigel J. Cairns,
  • John F. Crary,
  • Stephen J. Haggarty,
  • Justin K. Ichida,
  • Kenneth S. Kosik,
  • Bruce L. Miller,
  • Li Gan,
  • Alison M. Goate,
  • Sally Temple,
  • Carolina Alquezar,
  • Kathryn Bowles,
  • David Butler,
  • John F. Crary,
  • Li Gan,
  • Alison M. Goate,
  • Stephen J. Haggarty,
  • Israel Hernandez,
  • Valerie Hennes,
  • Cindy Huang,
  • Justin K. Ichida,
  • Martin Kampmann,
  • Aimee W. Kao,
  • Celeste M. Karch,
  • Anna Karydas,
  • Kenneth S. Kosik,
  • Rita Martinez,
  • Khadijah Onanuga,
  • M. Catarina Silva,
  • Sally Temple,
  • Chao Wang

Journal volume & issue
Vol. 13, no. 5
pp. 939 – 955

Abstract

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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. : In this article, Karch, Temple and colleagues describe a resource of fibroblasts, patient-derived induced pluripotent stem cells, and genome engineered stem cells with comprehensive clinical histories that can be accessed by the scientific community for disease modeling and development of novel therapeutics for primary tauopathies. Keywords: tau, MAPT, fibroblasts, induced pluripotent stem cells, neural progenitor cells, tauopathy, frontotemporal dementia, progressive supranuclear palsy, corticobasal degeneration, CRISPR/Cas9