Katariina Mamia

This paper presents a non-viral HDR-based CRISPR/Cas9 protocol for editing primary T cells with up to 80% HDR efficiency, targeting small pathogenic variants in patient and healthy donor cells.

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.

This paper presents a T cell gene correction pipeline using CRISPR/Cas9 and HDR to correct monogenic mutations in IEI models, achieving up to 80% bi-allelic editing with no detectable off-target effects.

The paper evaluates DNA repair protein-Cas9 fusions for improving CRISPR editing efficiency, finding that most require optimization for specific cell types and genomic loci.

The paper identifies a conserved DNA motif bound by PLAG1 that regulates zygotic genome activation in mice and humans, affecting early embryo development.