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• W3011664369 abstract "Three-dimensional (3D) organoid models derived from human pluripotent stem cells provide a platform for studying human development and understanding disease mechanisms. Most studies that examine biallelic inactivation of the cell cycle regulator Retinoblastoma 1 (RB1) and the link to retinoblastoma is in mice, however, less is known regarding the pathophysiological role of RB1 during human retinal development. To study the role of RB1 in early human retinal development and tumor formation, we generated retinal organoids from CRISPR/Cas9-derived RB1-null human embryonic stem cells (hESCs). We showed that RB is abundantly expressed in retinal progenitor cells in retinal organoids and loss of RB1 promotes S-phase entry. Furthermore, loss of RB1 resulted in widespread apoptosis and reduced the number of photoreceptor, ganglion, and bipolar cells. Interestingly, RB1 mutation in retinal organoids did not result in retinoblastoma formation in vitro or in the vitreous body of NOD/SCID immunodeficient mice. Together, our work identifies a crucial function for RB1 in human retinal development and suggests that RB1 deletion alone is not sufficient for tumor development, at least in human retinal organoids." @default.
• W3011664369 created "2020-03-23" @default.
• W3011664369 creator A5043426267 @default.
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• W3011664369 date "2020-06-01" @default.
• W3011664369 modified "2023-09-26" @default.
• W3011664369 title "Role of RB1 in human embryonic stem cell-derived retinal organoids" @default.
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• W3011664369 doi "https://doi.org/10.1016/j.ydbio.2020.03.011" @default.
• W3011664369 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7314500" @default.
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