ID   ST-EMO
AC   CVCL_DP21
DR   Wikidata; Q54955737
RX   PubMed=7517574;
RX   PubMed=10074495;
CC   Population: Moroccan.
CC   Sequence variation: Mutation; HGNC; 44; TAP2; Simple; p.Arg273Ter (c.817C>T) (R253*); ClinVar=VCV000013727; Zygosity=Homozygous (PubMed=7517574).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
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)
OI   CVCL_A5NE ! STF-1
SX   Male
AG   6Y
CA   Transformed cell line
DT   Created: 13-07-16; Last updated: 29-06-23; Version: 9
//
RX   PubMed=7517574; DOI=10.1126/science.7517574;
RA   de la Salle H., Hanau D., Fricker D., Urlacher A., Kelly A.P.,
RA   Salamero J., Powis S.H., Donato L., Bausinger H., Laforet M.,
RA   Jeras M., Spehner D., Bieber T., Falkenrodt A., Cazenave J.-P.,
RA   Trowsdale J., Tongio M.-M.;
RT   "Homozygous human TAP peptide transporter mutation in HLA class I
RT   deficiency.";
RL   Science 265:237-241(1994).
//
RX   PubMed=10074495; DOI=10.1172/JCI5687; PMCID=PMC408129;
RA   de la Salle H., Zimmer J., Fricker D., Angenieux C., Cazenave J.-P.,
RA   Okubo M., Maeda H., Plebani A., Tongio M.-M., Dormoy A., Hanau D.;
RT   "HLA class I deficiencies due to mutations in subunit 1 of the peptide
RT   transporter TAP1.";
RL   J. Clin. Invest. 103:R9-R13(1999).
//