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Cellosaurus LUMCi054-A-1 (CVCL_F1JJ)

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Cell line name LUMCi054-A-1
Synonyms LUMC0116iCRB09 ISO-02; iso02LUMC0116iCRB09
Accession CVCL_F1JJ
Resource Identification Initiative To cite this cell line use: LUMCi054-A-1 (RRID:CVCL_F1JJ)
Comments From: Leiden University Medical Center; Leiden; Netherlands.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:2343; CRB1; Simple_corrected; p.Met1041Thr (c.3122T>C); ClinVar=VCV000005730; Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=37541258).
Disease Retinitis pigmentosa (NCIt: C85045)
Retinitis pigmentosa (ORDO: Orphanet_791)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_F1JI (LUMCi054-A)
Sex of cell Male
Category Induced pluripotent stem cell
Publications

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)

Cross-references
Cell line databases/resources hPSCreg; LUMCi054-A-1
Biological sample resources BioSamples; SAMEA115120809
Entry history
Entry creation27-Nov-2025
Last entry update27-Nov-2025
Version number1