ID   TND-4
AC   CVCL_DP25
DR   Wikidata; Q54972728
RX   PubMed=3891604;
RX   PubMed=10074495;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 43; TAP1; Simple; c.778delG; Zygosity=Heterozygous (from familial inference of TND-3).
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
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RX   PubMed=3891604; DOI=10.1007/BF00395879;
RA   Maeda H., Hirata R., Chen R.-F., Suzaki H., Kudoh S., Tohyama H.;
RT   "Defective expression of HLA class I antigens: a case of the bare
RT   lymphocyte without immunodeficiency.";
RL   Immunogenetics 21:549-558(1985).
//
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).
//