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Cellosaurus SSI (CVCL_B7M6)

[Text version]
Cell line name SSI
Accession CVCL_B7M6
Resource Identification Initiative To cite this cell line use: SSI (RRID:CVCL_B7M6)
Comments Population: Caucasian; Dutch and Indonesian.
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.Gln321Ter (c.961C>T); Zygosity=Homozygous (PubMed=10395672).
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=10395672; DOI=10.4049/jimmunol.163.2.794
Peijnenburg A., van Eggermond M.C.J.A., Gobin S.J.P., van den Berg R., Godthelp B.C., Vossen J.M.J.J., van den Elsen P.J.
Discoordinate expression of invariant chain and MHC class II genes in class II transactivator-transfected fibroblasts defective for RFX5.
J. Immunol. 163:794-801(1999)

Cross-references
Encyclopedic resources Wikidata; Q112930426
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number7