ID   BRE
AC   CVCL_A5NF
DR   Wikidata; Q107113507
RX   PubMed=10074495;
CC   Sequence variation: Mutation; HGNC; HGNC:43; TAP1; Simple; p.Asp273fs (c.819delC); Zygosity=Homozygous (PubMed=10074495).
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)
SX   Male
AG   16-20Y
CA   Finite cell line
DT   Created: 20-05-21; Last updated: 19-12-24; Version: 6
CH   CVCL_A282 ! BRE-169
//
RX   PubMed=10074495; DOI=10.1172/JCI5687; PMCID=PMC408129;
RA   de la Salle, Henri
RA   Zimmer, Jacques
RA   Fricker, Dominique
RA   Angenieux, Catherine
RA   Cazenave, Jean-Pierre
RA   Okubo, Mitsuo
RA   Maeda, Hiroo
RA   Plebani, Alessandro
RA   Tongio, Marie-Marthe
RA   Dormoy, Anne
RA   Hanau, Daniel
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).
//