Editing of ADA2 Point Mutation in Human Hematopoietic Stem Cells
Pavel Kopcil, Carolina Wieczorek Ervik, Ganna Reint, Katariina Mamia, Monika Szymańska, Shiva Dahal‐Koirala, Jacob Conradi, Sigrid Fu Skjelbostad, Oda A. Dønåsen, Xiaojun Jiang, Cecilia Hagert, Oddrun Kristiansen, Trond Melbye Michelsen, Espen Melum, Rasmus Otkjær Bak, , Emma Maria Haapaniemi
This paper edits the ADA2 p.R169Q mutation in human hematopoietic stem cells using CRISPR-Cas9 and HDR, showing improved efficiency with NHEJ inhibitors but increased chromosomal deletions.
bioRxiv · Aug 14, 2025 · PreprintBioengineering