ID   ST-EAH
AC   CVCL_DP20
DR   Wikidata; Q54955736
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=Heterozygous (from familial inference of ST-EMO).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Age unspecified
CA   Transformed cell line
DT   Created: 13-07-16; Last updated: 29-06-23; Version: 7
//
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).
//