Stem Cell Research (Apr 2021)

Derivation of stem cell line UMi028-A-2 containing a CRISPR/Cas9 induced Alzheimer’s disease risk variant p.S1038C in the TTC3 gene

  • Mayra Juliana Laverde-Paz,
  • Karen Nuytemans,
  • Liyong Wang,
  • Jeffery M. Vance,
  • Margaret A. Pericak-Vance,
  • Derek M. Dykxhoorn,
  • Holly N. Cukier

Journal volume & issue
Vol. 52
p. 102258

Abstract

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The UMi028-A-2 human induced pluripotent stem cell line carries a homozygous mutation (rs377155188, C>G, p.S1038C) in the tetratricopeptide repeat domain 3 (TTC3) gene that was introduced via CRISPR/Cas9 genome editing. The line was originally derived from a neurologically normal male and has been thoroughly characterized following editing. The p.S1038C variant has been shown to potentially contribute to the risk of late onset Alzheimer’s disease and is a resource to further investigate the consequences of TTC3 and this alteration in disease pathology.