ID   STF-1
AC   CVCL_A5NE
DR   Wikidata; Q107116958
RX   PubMed=10074495;
RX   PubMed=10229096;
CC   Population: Moroccan.
CC   Sequence variation: Mutation; HGNC; 44; TAP2; Simple; p.Arg273Ter (c.817C>T) (R253*); ClinVar=VCV000013727; Zygosity=Homozygous (from autologous cell line ST-EMO).
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)
OI   CVCL_DP21 ! ST-EMO
SX   Male
AG   6Y
CA   Finite cell line
DT   Created: 20-05-21; Last updated: 29-06-23; Version: 6
//
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).
//
RX   PubMed=10229096; DOI=10.1002/(SICI)1521-4141(199904)29:04<1286::AID-IMMU1286>3.0.CO;2-L;
RA   Zimmer J., Donato L., Hanau D., Cazenave J.-P., Moretta A.,
RA   Tongio M.-M., de la Salle H.;
RT   "Inefficient protection of human TAP-deficient fibroblasts from
RT   autologous NK cell-mediated lysis by cytokines inducing HLA class I
RT   expression.";
RL   Eur. J. Immunol. 29:1286-1291(1999).
//