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Cellosaurus EBA (CVCL_B7K3)

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Cell line name EBA
Accession CVCL_B7K3
Resource Identification Initiative To cite this cell line use: EBA (RRID:CVCL_B7K3)
Comments Genetic integration: Method=Transfection; Gene=UniProtKB; P00552; Klebsiella pneumoniae transposon Tn5 neo.
Genetic integration: Method=Transfection; Gene=UniProtKB; P03070; Simian virus 40 (SV40) large T antigen.
Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:9987; RFXANK; Simple; p.Glu102Ter (c.304G>T); Zygosity=Homozygous (PubMed=10725724).
Disease Bare lymphocyte syndrome type 2 (NCIt: C171268)
Immunodeficiency by defective expression of MHC class II (ORDO: Orphanet_572)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 8M
Category Transformed cell line
Publications

PubMed=10725724; DOI=10.4049/jimmunol.164.7.3666
Uma M. Nagarajan, Ad Peijnenburg, Sam J.P. Gobin, Jeremy M. Boss, Peter J. van den Elsen;
Novel mutations within the RFX-B gene and partial rescue of MHC and related genes through exogenous class II transactivator in RFX-B-deficient cells.
J. Immunol. 164:3666-3674(2000)

Cross-references
Encyclopedic resources Wikidata; Q112929521
Entry history
Entry creation23-Jun-2022
Last entry update14-Aug-2025
Version number7