CRISPR/Cas9-mediated generation of a de novo C9ORF72 knock-in isogenic iPSC cell bank to model ALS and FTD
Niamh Louise O’Brien, Erin C. Hedges, R. Nair, Alexander J. Cammack, Mireia Carcolé, Deniz Vaizoglu, Sara Tacconelli, K. Sutherland, Chloe L Fisher-Ward, Ali Raza Awan, Simon D. Topp, Alfredo Iacoangeli, Adrian M. Isaacs, Thomas J. Cunningham, Marc‐David Ruepp, Sarah Mizielinska
The paper generates isogenic iPSC lines with a C9ORF72 G4C2 repeat expansion to model ALS and FTD, showing both loss- and gain-of-function pathologies.
bioRxiv · Nov 12, 2025 · PreprintNeuroscience