ID   LUMCi054-A-2
AC   CVCL_F1JK
SY   LUMC0116iCRB09 ISO-03; iso03LUMC0116iCRB09; ISO-03 P116
DR   BioSamples; SAMEA115121927
DR   hPSCreg; LUMCi054-A-2
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=Heterozygous (hPSCreg=LUMCi054-A-2).
CC   Sequence variation: Mutation; HGNC; HGNC:2343; CRB1; Simple_corrected; p.Met1041Thr (c.3122T>C); ClinVar=VCV000005730; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=37541258).
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)
HI   CVCL_F1JI ! LUMCi054-A
SX   Male
CA   Induced pluripotent stem cell
DT   Created: 27-11-25; Last updated: 27-11-25; Version: 1
//
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).
//