Decoding retinitis pigmentosa: Unveiling PRPF31 mutation effects on human iPSC-derived retinal organoids in vitro models
Alessandro Bellapianta, Ammer-Pickhardt Franziska, David Demmel, Johannes Pröll, Matthias Bolz, Ahmad Salti · FENS Forum 2024
Our research focuses on the elucidation of the PRPF31 gene mutation's impact on retinal cells, specifically within the context of Retinitis Pigmentosa (RP), employing human-induced pluripotent stem cells (hiPSCs). These hiPSCs, sourced from a patient with severe RP harboring the PRPF31 mutation and a healthy control, were differentiated into retinal organoids (ROs) using a refined protocol. The study's methodology encompassed a range of techniques including flow cytometry for assessing pluripotency, immunofluorescence and qPCR for progenitor and photoreceptor-specific markers, microelectrode a
ePoster · Neuroscience