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

Title	Derivation of stem cell line UMi028-A-2 containing a CRISPR/Cas9 induced Alzheimer's disease risk variant p.S1038C in the TTC3 gene.
Publication Type	Journal Article
Year of Publication	2021
Authors	Laverde-Paz MJuliana, Nuytemans K, Wang L, Vance JM, Pericak-Vance MA, Dykxhoorn DM, Cukier HN
Journal	Stem Cell Res
Volume	52
Pagination	102258
Date Published	2021 04
ISSN	1876-7753
Keywords	Alzheimer Disease, Cell Line, CRISPR-Cas Systems, Gene Editing, Humans, Induced Pluripotent Stem Cells, Male, Ubiquitin-Protein Ligases
Abstract	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.
DOI	10.1016/j.scr.2021.102258
Pubmed Link	https://www.ncbi.nlm.nih.gov/pubmed/33626494?dopt=Abstract
page_expo	External
Alternate Journal	Stem Cell Res
PubMed ID	33626494

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