Ontology highlight
ABSTRACT:
SUBMITTER: Lane A
PROVIDER: S-EPMC7363745 | biostudies-literature | 2020 Jul
REPOSITORIES: biostudies-literature
Stem cell reports 20200611 1
RP2 mutations cause a severe form of X-linked retinitis pigmentosa (XLRP). The mechanism of RP2-associated retinal degeneration in humans is unclear, and animal models of RP2 XLRP do not recapitulate this severe phenotype. Here, we developed gene-edited isogenic RP2 knockout (RP2 KO) induced pluripotent stem cells (iPSCs) and RP2 patient-derived iPSC to produce 3D retinal organoids as a human retinal disease model. Strikingly, the RP2 KO and RP2 patient-derived organoids showed a peak in rod pho ...[more]