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Abstract #124930 Published in IGR 25-2
Prime Editing Strategy to Install the Mfrp Retinal Degeneration 6 Mutation
da Costa BL; Pincay J; Brodie SE; Tsang SH; Quinn PMJAdv Exp Med Biol 2025; 1468: 113-118
Mutations in the MFRP (membrane-type frizzled-related protein) gene are associated with a spectrum of ocular diseases. Here, we report on a patient with MFRP-linked autosomal recessive retinitis pigmentosa (arRP) with nanophthalmos who exhibited yellow deposits circumferentially along with far temporal intraretinal pigment migration. In future studies, we plan to explore the amelioration of MFRP-associated phenotypes in patient-specific induced pluripotent stem cell (iPSC)-derived retinal pigment epithelium and in vivo using the classical Mfrp mouse model of RP. To effectively screen gene editing correction approaches for the Mfrp mouse model, we require a strategy to install the desired mutation in the Neuro-2a (N2a) mouse neuroblastoma cell line. In this study, we developed a prime editing strategy for the installation of the Mfrp c.445+3_6AAGTdel mutation.
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