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Cellosaurus OSE (CVCL_B7M8)

[Text version]
Cell line name OSE
Accession CVCL_B7M8
Resource Identification Initiative To cite this cell line use: OSE (RRID:CVCL_B7M8)
Comments Population: Turkish.
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) (Note=pSVori-).
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:9986; RFX5; Simple; p.Gln51Metfs*32 (c.151_154delCAAG); Zygosity=Homozygous (PubMed=10079298).
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)
Age at sampling Children
Category Transformed cell line
Publications

PubMed=10079298; DOI=10.1007/s002510050501
Ad Peijnenburg, Marja C.J.A. van Eggermond, Rian van den Berg, Ozden Sanal, Jaak M.J.J. Vossen, Peter J. van den Elsen;
Molecular analysis of an MHC class II deficiency patient reveals a novel mutation in the RFX5 gene.
Immunogenetics 49:338-345(1999)

Cross-references
Encyclopedic resources Wikidata; Q114312639
Entry history
Entry creation23-Jun-2022
Last entry update14-Aug-2025
Version number8