Subtle Cellular Phenotypes Inform Pathological and Benign Genetic Mutants in the Iduronidase-2 Sulfatase Gene
Anushka Viswanathan, Serena N Elia, Steven Q. Le, Sarah C. Hurt, Balraj Doray, Jason E. Waligorski, Kylan Kelley, William Buchser, Patricia Dickson
This study uses genome-engineered cells with IDS mutations to identify subtle lysosomal and membrane phenotypes that correlate with genetic variants in the IDS gene, improving the assessment of variant pathogenicity.
bioRxiv · Apr 17, 2025 · PreprintCell Biology