Abstract
Retinitis pigmentosa (RP) is an inherited retinal disease that remains incurable at present. In this study, we aimed to generate and characterize induced pluripotent stem cell (iPSC) lines from RP patients with CLN3 and CRB1 disease. The effect of specific variants on gene expression was also investigated in iPSC-derived retinal organoids. The results demonstrate the establishment of a disease-modelling pipeline for elucidating the molecular mechanisms of inherited retinal diseases and providing novel insights into the pathogenesis of human genetic variants associated with RP. This pipeline provides an ideal platform for the screening of pharmacological agents for the treatment of RP.
| Original language | English |
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| Qualification | Doctor of Philosophy |
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| Award date | 26 Aug 2020 |
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| Publication status | Unpublished - 2020 |
Access to Document
- THESIS - DOCTOR OF PHILOSOPHY - ZHANG Xiao - 2020
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