ID   6.1.6
AC   CVCL_B7M7
DR   Wikidata; Q112926998
RX   PubMed=75508;
RX   PubMed=1852002;
RX   PubMed=2511169;
RX   PubMed=6967232;
RX   PubMed=9118943;
CC   Characteristics: Good model for bare lymphocyte syndorme 2 as it does not express MHC class II determinants due to mutations in the RFXAP gene.
CC   HLA typing: A*01,02; B*08,27; C*01 (PubMed=6967232).
CC   Selected for resistance to: ChEBI; CHEBI:9555; Tioguanine (6-thioguanine; 6-TG).
CC   Sequence variation: Mutation; HGNC; 9988; RFXAP; Simple; p.Gly102Argfs*5 (c.302dupG) (1-BP INS, 413G); ClinVar=VCV000007649; Zygosity=Heterozygous (PubMed=9118943).
CC   Sequence variation: Mutation; HGNC; 9988; RFXAP; Simple; p.Ser132Glnfs*43 (c.392dupG) (1-BP INS, 505G); ClinVar=VCV000007650; Zygosity=Heterozygous (PubMed=9118943).
CC   Transformant: ChEBI; CHEBI:132982; Acridine half-mustard dihydrochloride (6-chloro-9-[3-(2-chloroethylamino)propylamino]-2-methoxyacridine dihydrochloride; Acridine mutagen ICR 191).
CC   Transformant: ChEBI; CHEBI:23994; Ethyl methanesulfonate (Methylsulfonic acid ethyl ester; MSEE).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C171268; Bare lymphocyte syndrome type 2
DI   NCIt; C34726; Infectious mononucleosis
DI   ORDO; Orphanet_572; Immunodeficiency by defective expression of MHC class II
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_E839 ! T5-1
SX   Female
AG   Age unspecified
CA   Transformed cell line
DT   Created: 23-06-22; Last updated: 29-06-23; Version: 4
//
RX   PubMed=75508; DOI=10.1038/271459a0;
RA   Gladstone P., Pious D.A.;
RT   "Stable variants affecting B cell alloantigens in human lymphoid
RT   cells.";
RL   Nature 271:459-461(1978).
//
RX   PubMed=1852002; DOI=10.1073/pnas.88.10.4285;
RA   Benichou B., Strominger J.L.;
RT   "Class II-antigen-negative patient and mutant B-cell lines represent
RT   at least three, and probably four, distinct genetic defects defined by
RT   complementation analysis.";
RL   Proc. Natl. Acad. Sci. U.S.A. 88:4285-4288(1991).
//
RX   PubMed=2511169; DOI=10.1016/0198-8859(89)90007-4;
RA   Hume C.R., Lee J.S.;
RT   "Congenital immunodeficiencies associated with absence of HLA class II
RT   antigens on lymphocytes result from distinct mutations in trans-acting
RT   factors.";
RL   Hum. Immunol. 26:288-309(1989).
//
RX   PubMed=6967232; DOI=10.1007/BF01538802;
RA   Gladstone P., Pious D.A.;
RT   "Identification of a trans-acting function regulation HLA-DR
RT   expression in a DR-negative B cell variant.";
RL   Somatic Cell Genet. 6:285-298(1980).
//
RX   PubMed=9118943; DOI=10.1093/emboj/16.5.1045;
RA   Durand B., Sperisen P., Emery P., Barras E., Zufferey M., Mach B.,
RA   Reith W.;
RT   "RFXAP, a novel subunit of the RFX DNA binding complex is mutated in
RT   MHC class II deficiency.";
RL   EMBO J. 16:1045-1055(1997).
//