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


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

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