RETORNA LUMC

Title	RETORNA LUMC
Acronym	CRB1
Website	https://retorna.eu/
Start date	2023-09-01
End date	2026-08-31
Sponsor	HORIZON-MSCA-2021-DN-01
Institution	Leiden University Medical Center
Principal investigator	Jan Wijnholds E-Mail: j.wijnholds@lumc.nl

Associated cell lines

• LUMCi054-A (CRB1 patient c.3122T>C p.(Met1041Thr) homozygote, LUMC0116iCRB09)
• LUMCi054-A-1 (iso02LUMC0116iCRB09, LUMC0116iCRB09 homozygote CRISPR corrected isogenic clone 02, LUMC0116iCRB09 ISO-02)
• LUMCi054-A-2 (iso03LUMC0116iCRB09, LUMC0116iCRB09 heterozygote CRISPR corrected isogenic clone 03, LUMC0116iCRB09 ISO-03)
• LUMCi055-A (CRB1 patient 117 compound heterozygous 2983G>T p.(Glu995*) c.1892A>G, p.(Tyr631Cys), LUMC0117iCRB01)
• LUMCi056-A (CRB1 patient 128 compound heterozygous c.2843G>A p.(Cys948Tyr) and c.3122T>C p.(Met1041Thr), LUMC0128iCRB01)
• LUMCi056-A-1 (iso02LUMC0128iCRB01, LUMC0128iCRB01 heterozygote CRISPR corrected isogenic clone 02)

Publications

• Quinn PM et al. Human iPSC-Derived Retinas Recapitulate the Fetal CRB1 CRB2 Complex Formation and Demonstrate that Photoreceptors and Müller Glia Are Targets of AAV5. Stem cell reports. 2019 May 14;12(5):906-919.

Project Description

Patient and knockout retinal organoids are used as a platform to develop retinal gene therapy to fight blindness due to mutations in the CRB1 gene