Cellosaurus cell line KER (CVCL

Cellosaurus KER (CVCL_B7LP)

Cross-references
Cell line name	KER
Synonyms	Ker
Accession	CVCL_B7LP
Resource Identification Initiative	To cite this cell line use: KER (RRID:CVCL_B7LP)
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 (PubMed=12368908).
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 Hauber I., Gulle H., Wolf H.M., Maris M., Eggenbauer H., Eibl M.M. 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 Douhan J. 3rd, Hauber I., Eibl M.M., Glimcher L.H. 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) PubMed=12368908; DOI=10.1038/ni840 Nekrep N., Jabrane-Ferrat N., Wolf H.M., Eibl M.M., Geyer M., Peterlin B.M. Mutation in a winged-helix DNA-binding motif causes atypical bare lymphocyte syndrome. Nat. Immunol. 3:1075-1081(2002)
Encyclopedic resources	Wikidata; Q112929952
Entry history
Entry creation	23-Jun-2022
Last entry update	19-Dec-2024
Version number	5