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Cellosaurus Ss (CVCL_B7LQ)

[Text version]
Cell line name Ss
Synonyms SS
Accession CVCL_B7LQ
Resource Identification Initiative To cite this cell line use: Ss (RRID:CVCL_B7LQ)
Comments Population: Algerian.
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:9988; RFXAP; Simple; p.Ser123Thrfs*15 (c.368delG) (484delG); ClinVar=VCV000007651; Zygosity=Homozygous (PubMed=9536093).
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=7951244; DOI=10.1093/hmg/3.6.953
Barbara Lisowska-Grospierre, Marie-Claude Fondaneche, Marie-Pierre Rols, Claude Griscelli, Alain Fischer;
Two complementation groups account for most cases of inherited MHC class II deficiency.
Hum. Mol. Genet. 3:953-958(1994)

PubMed=9536093; DOI=10.1093/hmg/7.5.879
Marie-Claude Fondaneche, Jean Villard, Wojciech Wiszniewski, Emmanuelle Jouanguy, Amos Etzioni, Francoise Le Deist, Ad Peijnenburg, Jean-Laurent Casanova, Walter Reith, Bernard Mach, Alain Fischer, Barbara Lisowska-Grospierre;
Genetic and molecular definition of complementation group D in MHC class II deficiency.
Hum. Mol. Genet. 7:879-885(1998)

Cross-references
Encyclopedic resources Wikidata; Q112930424
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number6