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Cellosaurus ShA (CVCL_B7LM)

[Text version]
Cell line name ShA
Accession CVCL_B7LM
Resource Identification Initiative To cite this cell line use: ShA (RRID:CVCL_B7LM)
Comments Population: Druze.
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.Pro12Argfs (c.35insGCGGGCG) (151ins7(GCGGGCG)fs329X); 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=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; Q112930385
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number5