L424V : Mutation rate in human cells

Human cells with an engineered homozygous POLE-L424V mutation have an elevated mutation rate.

• Labrousse, G. et al. The hereditary N363K POLE exonuclease mutant extends PPAP tumor spectrum to glioblastomas by causing DNA damage and aneuploidy in addition to increased mismatch mutagenicity. NAR Cancer 5, zcad011 (2023). https://pubmed.ncbi.nlm.nih.gov/36915289/