Cellosaurus logo
expasy logo

Cellosaurus 6.1.6 (CVCL_B7M7)

[Text][XML][JSON]
Cell line name 6.1.6
Accession CVCL_B7M7
Resource Identification Initiative To cite this cell line use: 6.1.6 (RRID:CVCL_B7M7)
Comments Characteristics: Good model for bare lymphocyte syndorme 2 as it does not express MHC class II determinants due to mutations in the RFXAP gene.
Selected for resistance to: ChEBI; CHEBI_9555; Tioguanine (6-thioguanine; 6-TG).
Transformant: ChEBI; CHEBI_132982; Acridine half-mustard dihydrochloride (6-chloro-9-[3-(2-chloroethylamino)propylamino]-2-methoxyacridine dihydrochloride; Acridine mutagen ICR 191).
Transformant: ChEBI; CHEBI_23994; Ethyl methanesulfonate (Methylsulfonic acid ethyl ester; MSEE).
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:9988; RFXAP; Simple; p.Gly102Argfs*5 (c.302dupG) (1-BP INS, 413G); ClinVar=VCV000007649; Zygosity=Heterozygous (PubMed=9118943).
  • Mutation; HGNC; HGNC:9988; RFXAP; Simple; p.Ser132Glnfs*43 (c.392dupG) (1-BP INS, 505G); ClinVar=VCV000007650; Zygosity=Heterozygous (PubMed=9118943).
HLA typing Source: PubMed=6967232
Class I
HLA-AA*01,02
HLA-BB*08,27
HLA-CC*01
Disease Bare lymphocyte syndrome type 2 (NCIt: C171268)
Infectious mononucleosis (NCIt: C34726)
Immunodeficiency by defective expression of MHC class II (ORDO: Orphanet_572)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_E839 (T5-1)
Sex of cell Female
Age at sampling Age unspecified
Category Transformed cell line
Publications

PubMed=75508; DOI=10.1038/271459a0
Paul Gladstone, Donald A. Pious;
Stable variants affecting B cell alloantigens in human lymphoid cells.
Nature 271:459-461(1978)

PubMed=6967232; DOI=10.1007/BF01538802
Paul Gladstone, Donald A. Pious;
Identification of a trans-acting function regulation HLA-DR expression in a DR-negative B cell variant.
Somatic Cell Genet. 6:285-298(1980)

PubMed=2511169; DOI=10.1016/0198-8859(89)90007-4
Clifford R. Hume, Janet S. Lee;
Congenital immunodeficiencies associated with absence of HLA class II antigens on lymphocytes result from distinct mutations in trans-acting factors.
Hum. Immunol. 26:288-309(1989)

PubMed=1852002; DOI=10.1073/pnas.88.10.4285; PMCID=PMC51643
Bernard Benichou, Jack Leonard Strominger;
Class II-antigen-negative patient and mutant B-cell lines represent at least three, and probably four, distinct genetic defects defined by complementation analysis.
Proc. Natl. Acad. Sci. U.S.A. 88:4285-4288(1991)

PubMed=9118943; DOI=10.1093/emboj/16.5.1045; PMCID=PMC1169704
Benedicte Durand, Peter Sperisen, Patrick Emery, Emmanuele Barras, Madeleine Zufferey, Bernard Mach, Walter Reith;
RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency.
EMBO J. 16:1045-1055(1997)

Cross-references
Encyclopedic resources Wikidata; Q112926998
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number5