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

doi:10.1016/j.scr.2021.102258

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

Stem Cell Res. 2021 Apr:52:102258. doi: 10.1016/j.scr.2021.102258. Epub 2021 Feb 18.

Authors

Mayra Juliana Laverde-Paz¹, Karen Nuytemans², Liyong Wang², Jeffery M Vance³, Margaret A Pericak-Vance³, Derek M Dykxhoorn², Holly N Cukier⁴

Affiliations

¹ John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136.
² John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL 33136.
³ John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL 33136; Department of Neurology, University of Miami Miller School of Medicine, Miami, FL 33136.
⁴ John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL 33136; Department of Neurology, University of Miami Miller School of Medicine, Miami, FL 33136. Electronic address: hcukier@med.miami.edu.

PMID: 33626494
DOI: 10.1016/j.scr.2021.102258

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Alzheimer Disease* / genetics
CRISPR-Cas Systems / genetics
Cell Line
Gene Editing
Humans
Induced Pluripotent Stem Cells*
Male
Ubiquitin-Protein Ligases

Substances

TTC3 protein, human
Ubiquitin-Protein Ligases