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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
Ad Peijnenburg, Marja C.J.A. van Eggermond, Sam J.P. Gobin, Rian van den Berg, Barbara C. Godthelp, Jaak M.J.J. Vossen, Peter J. van den Elsen;
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