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; 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: 19-12-24; Version: 12
//
RX   PubMed=17977821; DOI=10.1074/jbc.M708139200;
RA   Demirel, Ozlem
RA   Waibler, Zoe
RA   Kalinke, Ulrich
RA   Grunebach, Frank
RA   Appel, Silke
RA   Brossart, Peter
RA   Hasilik, Andrej
RA   Tampe, Robert
RA   Abele, Rupert
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, Marieke C.
RA   Koppers-Lalic, Danijela
RA   Loch, Sandra
RA   Klauschies, Florian
RA   de la Salle, Henri
RA   Quinten, Edwin
RA   Lehner, Paul Joseph
RA   Mulder, Arend
RA   Knittler, Michael R.
RA   Tampe, Robert
RA   Koch, Joachim
RA   Ressing, Maaike Elisabeth
RA   Wiertz, Emmanuel 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).
//