High density SNP array and reanalysis of genome sequencing uncovers CNVs associated with neurodevelopmental disorders in KOLF2.1J iPSCs
Carolina Gracia-Diaz, Jonathan Elliot Perdomo, Munir E. Khan, Brianna Disanza, Gregory G. Cajka, Sunyimeng Lei, Alyssa L. Gagne, Jean Ann Maguire, Thomas Roulé, Ophir Shalem, Elizabeth J. K. Bhoj, Rebecca C. Ahrens‐Nicklas, Deborah L. French, Ethan M. Goldberg, Kai Wang, , Naiara Akizu
The paper identifies CNVs in KOLF2.1J iPSCs linked to neurological disorders, showing they arose in vitro and affect gene expression in neural cells.
bioRxiv · Jun 26, 2023 · PreprintGenetics