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

Stem Cell Reports. 2019 Nov 12;13(5):939-955. doi: 10.1016/j.stemcr.2019.09.006. Epub 2019 Oct 17.


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.

Keywords: CRISPR/Cas9; MAPT; corticobasal degeneration; fibroblasts; frontotemporal dementia; induced pluripotent stem cells; neural progenitor cells; progressive supranuclear palsy; tau; tauopathy.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Line
  • Fibroblasts / metabolism
  • Fibroblasts / pathology
  • Gene Editing
  • Humans
  • Induced Pluripotent Stem Cells / metabolism
  • Induced Pluripotent Stem Cells / pathology*
  • Mutation
  • Neural Stem Cells / metabolism
  • Neural Stem Cells / pathology
  • Neurogenesis
  • Neurons / metabolism
  • Neurons / pathology
  • Tauopathies / genetics
  • Tauopathies / pathology*
  • tau Proteins / genetics


  • MAPT protein, human
  • tau Proteins