ID   STF1-169
AC   CVCL_F744
SY   STF1.169
DR   BTO; BTO:0003755
DR   Wikidata; Q54970575
RX   PubMed=17977821;
RX   PubMed=18802093;
CC   Population: Moroccan.
CC   Sequence variation: Mutation; HGNC; 44; TAP2; Simple; p.Arg273Ter (c.817C>T) (R253*); ClinVar=VCV000013727; Zygosity=Homozygous (from parent cell line).
CC   Genetic integration: Method=Transfection/transduction; Gene=UniProtKB; P00557; Escherichia coli hygromycin-B 4-O-kinase (hph) (HygR).
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; C171267; Bare lymphocyte syndrome type 1
DI   ORDO; Orphanet_34592; Immunodeficiency by defective expression of MHC class I
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_A5NE ! STF-1
SX   Male
AG   6Y
CA   Transformed cell line
DT   Created: 11-02-13; Last updated: 10-09-24; Version: 11
//
RX   PubMed=17977821; DOI=10.1074/jbc.M708139200;
RA   Demirel O., Waibler Z., Kalinke U., Grunebach F., Appel S.,
RA   Brossart P., Hasilik A., Tampe R., Abele R.;
RT   "Identification of a lysosomal peptide transport system induced during
RT   dendritic cell development.";
RL   J. Biol. Chem. 282:37836-37843(2007).
//
RX   PubMed=18802093; DOI=10.4049/jimmunol.181.7.4894;
RA   Verweij M.C., Koppers-Lalic D., Loch S., Klauschies F.,
RA   de la Salle H., Quinten E., Lehner P.J., Mulder A., Knittler M.R.,
RA   Tampe R., Koch J., Ressing M.E., Wiertz E.J.H.J.;
RT   "The varicellovirus UL49.5 protein blocks the transporter associated
RT   with antigen processing (TAP) by inhibiting essential conformational
RT   transitions in the 6+6 transmembrane TAP core complex.";
RL   J. Immunol. 181:4894-4907(2008).
//