Generation of a human induced pluripotent stem cell line (UQi001-A-1) edited with the CRISPR-Cas9 system to carry the heterozygous TARDBP c.1144G > A (p.A382T) missense mutation
Summary
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease in which the TDP-43 protein is believed to play a central role in disease pathophysiology. Using the CRISPR-Cas9 system, we introduced the heterozygous c.1144G > A (p.A382T) missense mutation in exon 6 of the TARDBP gene into an iPSC line derived from a healthy individual. These edited iPSCs displayed normal cellular morphology, expressed major pluripotency markers, were capable of tri-lineage differentiation, and possessed a normal karyotype. Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Tracey TJ, Jiang L, Gill MK, Ranie SN, Ovchinnikov DA, Wolvetang EJ, Ngo ST |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2023 Aug;70:103137 |
| PubMed | 37315423 |
| DOI | 10.1016/j.scr.2023.103137 |