ID   LUMCi054-A
AC   CVCL_F1JI
SY   LUMC0116iCRB09; LUMC0116iCRB clone 9; P116
DR   BioSamples; SAMEA115120807
DR   hPSCreg; LUMCi054-A
RX   PubMed=30956116;
RX   PubMed=37541258;
CC   From: Leiden University Medical Center; Leiden; Netherlands.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:2343; CRB1; Simple; p.Met1041Thr (c.3122T>C); ClinVar=VCV000005730; Zygosity=Homozygous (PubMed=30956116).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C85045; Retinitis pigmentosa
DI   ORDO; Orphanet_791; Retinitis pigmentosa
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
CA   Induced pluripotent stem cell
DT   Created: 27-11-25; Last updated: 27-11-25; Version: 1
CH   CVCL_F1JJ ! LUMCi054-A-1
CH   CVCL_F1JK ! LUMCi054-A-2
CH   CVCL_F1W9 ! LUMCi054-A-3
//
RX   PubMed=30956116; DOI=10.1016/j.stemcr.2019.03.002; PMCID=PMC6522954;
RA   Quinn, Peter M.J.
RA   Buck, Thilo M.
RA   Mulder, Aat A.
RA   Ohonin, Charlotte
RA   Alves, Ceso Henrique
RA   Vos, Rogier M.
RA   Bialecka, Monika
RA   van Herwaarden, Tessa
RA   van Dijk, Elon Hendrik Cornelis
RA   Talib, Mays
RA   Freund, Christian M.A.H.
RA   Mikkers, Harald M.M.
RA   Hoeben, Robert C.
RA   Goumans, Marie-Jose
RA   Boon, Camiel J.F.
RA   Koster, Abraham Johannes
RA   Chuva de Sousa Lopes, Susana M.
RA   Jost, Carolina R.
RA   Wijnholds, Jan
RT   "Human iPSC-derived retinas recapitulate the fetal CRB1 CRB2 complex
RT   formation and demonstrate that photoreceptors and Muller glia are
RT   targets of AAV5.";
RL   Stem Cell Reports 12:906-919(2019).
//
RX   PubMed=37541258; DOI=10.1016/j.stemcr.2023.07.001; PMCID=PMC10545476;
RA   Buck, Thilo M.
RA   Quinn, Peter M.J.
RA   Pellissier, Lucie P.
RA   Mulder, Aat A.
RA   Jongejan, Aldo
RA   Lu, Xue-Fei
RA   Boon, Nanda
RA   Koot, Danielle
RA   Almushattat, Hind
RA   Arendzen, Christiaan H.
RA   Vos, Rogier M.
RA   Bradley, Edward J.
RA   Freund, Christian M.A.H.
RA   Mikkers, Harald M.M.
RA   Boon, Camiel J.F.
RA   Moerland, Perry D.
RA   Baas, Frank
RA   Koster, Abraham Johannes
RA   Neefjes, Jacques J.C.
RA   Berlin, Ilana
RA   Jost, Carolina R.
RA   Wijnholds, Jan
RT   "CRB1 is required for recycling by RAB11A+ vesicles in human retinal
RT   organoids.";
RL   Stem Cell Reports 18:1793-1810(2023).
//