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Cellosaurus KEN (CVCL_B7MB)

[Text version]
Cell line name KEN
Accession CVCL_B7MB
Resource Identification Initiative To cite this cell line use: KEN (RRID:CVCL_B7MB)
Comments Population: Turkish.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:9986; RFX5; Simple; p.Arg149Gln (c.446G>A); ClinVar=VCV000007648; Zygosity=Homozygous (from familial inference of KER).
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)
Sex of cell Male
Age at sampling <1Y
Category Transformed cell line
Publications

PubMed=7699327; DOI=10.1084/jem.181.4.1411; PMCID=PMC2191976
Ilona Hauber, Heinz Gulle, Hermann M. Wolf, Maggi Maris, Heinz Eggenbauer, Martha Marianne Eibl;
Molecular characterization of major histocompatibility complex class II gene expression and demonstration of antigen-specific T cell response indicate a new phenotype in class II-deficient patients.
J. Exp. Med. 181:1411-1423(1995)

PubMed=8642248; DOI=10.1084/jem.183.3.1063; PMCID=PMC2192314
John Douhan 3rd, Ilona Hauber, Martha Marianne Eibl, Laurie Hollis Glimcher;
Genetic evidence for a new type of major histocompatibility complex class II combined immunodeficiency characterized by a dyscoordinate regulation of HLA-D alpha and beta chains.
J. Exp. Med. 183:1063-1069(1996)

Cross-references
Encyclopedic resources Wikidata; Q112929948
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number6