ID   RO
AC   CVCL_1886
SY   Ro; Robert
DR   BioSample; SAMN03473551
DR   DSMZ; ACC-452
DR   DSMZCellDive; ACC-452
DR   Wikidata; Q54950785
RX   PubMed=3133120;
RX   PubMed=7744245;
RX   PubMed=20454443;
CC   Doubling time: ~50-60 hours (DSMZ=ACC-452).
CC   Sequence variation: Mutation; HGNC; HGNC:9986; RFX5; Simple; p.Arg294Ter (c.880C>T); ClinVar=VCV001431893; Zygosity=Homozygous (PubMed=7744245).
CC   Sequence variation: Mutation; HGNC; HGNC:9986; RFX5; Simple; p.Pro409Arg (c.1226C>G); ClinVar=VCV000292612; Zygosity=Homozygous (PubMed=7744245).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
ST   Source(s): DSMZ=ACC-452
ST   Amelogenin: X,Y
ST   CSF1PO: 10,12
ST   D13S317: 11,12
ST   D16S539: 10,12
ST   D18S51: 14,15
ST   D19S433: 14
ST   D21S11: 28,29
ST   D2S1338: 20,21
ST   D3S1358: 14,15
ST   D5S818: 12,13
ST   D7S820: 11,12
ST   D8S1179: 13,14
ST   FGA: 19,23
ST   Penta D: 9,12
ST   Penta E: 12,16
ST   TH01: 7,8
ST   TPOX: 8,10
ST   vWA: 17,18
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   Male
AG   3Y
CA   Transformed cell line
DT   Created: 04-04-12; Last updated: 19-12-24; Version: 18
//
RX   PubMed=3133120; DOI=10.1016/S0092-8674(88)90389-3;
RA   Reith W., Satola S.W., Herrero Sanchez C., Amaldi I.,
RA   Lisowska-Grospierre B., Griscelli C., Hadam M.R., Mach B.;
RT   "Congenital immunodeficiency with a regulatory defect in MHC class II
RT   gene expression lacks a specific HLA-DR promoter binding protein,
RT   RF-X.";
RL   Cell 53:897-906(1988).
//
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=20454443; DOI=10.1155/2010/904767; PMCID=PMC2861168;
RA   Uphoff C.C., Denkmann S.A., Steube K.G., Drexler H.G.;
RT   "Detection of EBV, HBV, HCV, HIV-1, HTLV-I and -II, and SMRV in human
RT   and other primate cell lines.";
RL   J. Biomed. Biotechnol. 2010:904767.1-904767.23(2010).
//