• Mutation; HGNC; HGNC:2343; CRB1; Simple; p.Cys948Tyr (c.2843G>A); ClinVar=VCV000039614; Zygosity=Heterozygous (PubMed=30956116).
  
• Mutation; HGNC; HGNC:2343; CRB1; Simple; p.Met1041Thr (c.3122T>C); ClinVar=VCV000005730; Zygosity=Heterozygous (PubMed=30956116).
  

PubMed=30956116; DOI=10.1016/j.stemcr.2019.03.002; PMCID=PMC6522954
Peter M.J. Quinn, Thilo M. Buck, Aat A. Mulder, Charlotte Ohonin, Ceso Henrique Alves, Rogier M. Vos, Monika Bialecka, Tessa van Herwaarden, Elon Hendrik Cornelis van Dijk, Mays Talib, Christian M.A.H. Freund ...Show all 19 authors... , Harald M.M. Mikkers, Robert C. Hoeben, Marie-Jose Goumans, Camiel J.F. Boon, Abraham Johannes Koster, Susana M. Chuva de Sousa Lopes, Carolina R. Jost, Jan Wijnholds; Show fewer authors
Human iPSC-derived retinas recapitulate the fetal CRB1 CRB2 complex formation and demonstrate that photoreceptors and Muller glia are targets of AAV5.
Stem Cell Reports 12:906-919(2019)

PubMed=37541258; DOI=10.1016/j.stemcr.2023.07.001; PMCID=PMC10545476
Thilo M. Buck, Peter M.J. Quinn, Lucie P. Pellissier, Aat A. Mulder, Aldo Jongejan, Xue-Fei Lu, Nanda Boon, Danielle Koot, Hind Almushattat, Christiaan H. Arendzen, Rogier M. Vos ...Show all 22 authors... , Edward J. Bradley, Christian M.A.H. Freund, Harald M.M. Mikkers, Camiel J.F. Boon, Perry D. Moerland, Frank Baas, Abraham Johannes Koster, Jacques J.C. Neefjes, Ilana Berlin, Carolina R. Jost, Jan Wijnholds; Show fewer authors
CRB1 is required for recycling by RAB11A+ vesicles in human retinal organoids.
Stem Cell Reports 18:1793-1810(2023)