ID   FZA
AC   CVCL_B7K4
DR   Wikidata; Q112929575
RX   PubMed=10725724;
CC   Sequence variation: Mutation; HGNC; HGNC:9987; RFXANK; Simple; p.Leu195Pro (c.584T>C); ClinVar=VCV000827735; Zygosity=Homozygous (PubMed=10725724).
CC   Genetic integration: Method=Transfection; Gene=UniProtKB; P03070; SV40 large T antigen.
CC   Genetic integration: Method=Transfection; Gene=UniProtKB; P00552; Transposon Tn5 neo.
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
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   14Y
CA   Transformed cell line
DT   Created: 23-06-22; Last updated: 19-12-24; Version: 6
//
RX   PubMed=10725724; DOI=10.4049/jimmunol.164.7.3666;
RA   Nagarajan U.M., Peijnenburg A., Gobin S.J.P., Boss J.M.,
RA   van den Elsen P.J.;
RT   "Novel mutations within the RFX-B gene and partial rescue of MHC and
RT   related genes through exogenous class II transactivator in
RT   RFX-B-deficient cells.";
RL   J. Immunol. 164:3666-3674(2000).
//