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


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. Copyright © 2021 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Laverde-Paz MJ, Nuytemans K, Wang L, Vance JM, Pericak-Vance MA, Dykxhoorn DM, Cukier HN
Journal Stem cell research
Publication Date 2021 Apr;52:102258
PubMed 33626494
DOI 10.1016/j.scr.2021.102258

Research Projects

Cell Lines