ID   SJO
AC   CVCL_0T73
DR   ATCC; CRL-2293
DR   BioSample; SAMN03471860
DR   Wikidata; Q54953583
RX   PubMed=1538137;
RX   PubMed=1852002;
RX   PubMed=2299498;
RX   PubMed=7615790;
RX   PubMed=7744245;
RX   PubMed=8106283;
RX   PubMed=9806546;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 9986; RFX5; Simple; p.Ser78Argfs*7 (c.234delCTCAG); Zygosity=Homozygous (PubMed=7744245).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Discontinued: ATCC; CRL-2293; true.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): ATCC=CRL-2293
ST   Amelogenin: X
ST   CSF1PO: 11,13
ST   D13S317: 8,12
ST   D16S539: 9,11
ST   D5S818: 10,12
ST   D7S820: 11
ST   TH01: 7
ST   TPOX: 11
ST   vWA: 14,18
DI   NCIt; C171268; Bare lymphocyte syndrome type 2
DI   ORDO; Orphanet_572; Immunodeficiency by defective expression of MHC class II
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   8M
CA   Transformed cell line
DT   Created: 08-07-15; Last updated: 02-05-24; Version: 11
//
RX   PubMed=1538137; DOI=10.4049/jimmunol.148.5.1576;
RA   Seidl C., Saraiya C., Osterweil Z., Fu Y.P., Lee J.S.;
RT   "Genetic complexity of regulatory mutants defective for HLA class II
RT   gene expression.";
RL   J. Immunol. 148:1576-1584(1992).
//
RX   PubMed=1852002; DOI=10.1073/pnas.88.10.4285; PMCID=PMC51643;
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=2299498; DOI=10.1016/S0022-3476(05)82885-9;
RA   Casper J.T., Ash R.A., Kirchner P., Hunter J.B., Havens P.L.,
RA   Chusid M.J.;
RT   "Successful treatment with an unrelated-donor bone marrow transplant
RT   in an HLA-deficient patient with severe combined immune deficiency
RT   ('bare lymphocyte syndrome').";
RL   J. Pediatr. 116:262-265(1990).
//
RX   PubMed=7615790; DOI=10.1172/JCI118023; PMCID=PMC185191;
RA   Kovats S., Nepom G.T., Coleman M., Nepom B., Kwok W.W., Blum J.S.;
RT   "Deficient antigen-presenting cell function in multiple genetic
RT   complementation groups of type II bare lymphocyte syndrome.";
RL   J. Clin. Invest. 96:217-223(1995).
//
RX   PubMed=7744245; DOI=10.1101/gad.9.9.1021;
RA   Steimle V., Durand B., Barras E., Zufferey M., Hadam M.R., Mach B.,
RA   Reith W.;
RT   "A novel DNA-binding regulatory factor is mutated in primary MHC class
RT   II deficiency (bare lymphocyte syndrome).";
RL   Genes Dev. 9:1021-1032(1995).
//
RX   PubMed=8106283; DOI=10.1016/0198-8859(93)90547-E;
RA   Nocera A., Barocci S., De Palma R., Gorski J.;
RT   "Analysis of transcripts of genes located within the HLA-D region in B
RT   cells from an HLA-severe combined immunodeficiency individual.";
RL   Hum. Immunol. 38:231-234(1993).
//
RX   PubMed=9806546; DOI=10.1038/3081;
RA   Masternak K., Barras E., Zufferey M., Conrad B., Corthals G.L.,
RA   Aebersold R., Sanchez J.-C., Hochstrasser D.F., Mach B., Reith W.;
RT   "A gene encoding a novel RFX-associated transactivator is mutated in
RT   the majority of MHC class II deficiency patients.";
RL   Nat. Genet. 20:273-277(1998).
//