Retinal Organoids derived from AIPL1-LCA Patient iPSCs Maintain Retinal Cytoarchitecture under Reduced AIPL1 Levels

In this study, we generated three-dimensional (3D) retinal organoids (ROs) from induced pluripotent stem cells (iPSCs) derived from an LCA4 patient carrying a Cys89Arg mutation in AIPL1. This study aimed to (i) explore whether the patient iPSC-derived ROs recapitulate LCA4 disease phenotype, and (ii) generate a clinically relevant resource to investigate the molecular mechanism of disease and safely test novel therapies for LCA4 in vitro. Two control iPSC lines and patient’s iPSCs were subjected to the differentiation protocol and 15-20 organoids were pooled from 3-5 independent differentiation experiments at days (D) 25, 60, 88 and 123.