Cellosaurus cell line LUMCi056-A-2 (CVCL

Cellosaurus LUMCi056-A-2 (CVCL_F1WB)

Entry history
Cell line name	LUMCi056-A-2
Synonyms	LUMC0128iCRB01 ISO-01; iso01LUMC0128iCRB01
Accession	CVCL_F1WB
Resource Identification Initiative	To cite this cell line use: LUMCi056-A-2 (RRID:CVCL_F1WB)
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; p.Cys948Tyr (c.2843G>A); ClinVar=VCV000039614; Zygosity=Heterozygous (PubMed=37541258). Mutation; HGNC; HGNC:2343; CRB1; Simple_corrected; p.Met1041Thr (c.3122T>C); ClinVar=VCV000005730; Zygosity=Heterozygous; 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_F1JM (LUMCi056-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)
Entry creation	27-Nov-2025
Last entry update	27-Nov-2025
Version number	1