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Cellosaurus ST-EMO (CVCL_DP21)

[Text version]
Cell line name ST-EMO
Accession CVCL_DP21
Resource Identification Initiative To cite this cell line use: ST-EMO (RRID:CVCL_DP21)
Comments Population: Moroccan.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:44; TAP2; Simple; p.Arg273Ter (c.817C>T) (R253*); ClinVar=VCV000013727; Zygosity=Homozygous (PubMed=7517574).
Disease Bare lymphocyte syndrome type 1 (NCIt: C171267)
Immunodeficiency by defective expression of MHC class I (ORDO: Orphanet_34592)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_A5NE ! STF-1
Sex of cell Male
Age at sampling 6Y
Category Transformed cell line
Publications

PubMed=7517574; DOI=10.1126/science.7517574
de la Salle H., Hanau D., Fricker D., Urlacher A., Kelly A.P., Salamero J., Powis S.H., Donato L., Bausinger H., Laforet M., Jeras M., Spehner D., Bieber T., Falkenrodt A., Cazenave J.-P., Trowsdale J., Tongio M.-M.
Homozygous human TAP peptide transporter mutation in HLA class I deficiency.
Science 265:237-241(1994)

PubMed=10074495; DOI=10.1172/JCI5687; PMCID=PMC408129
de la Salle H., Zimmer J., Fricker D., Angenieux C., Cazenave J.-P., Okubo M., Maeda H., Plebani A., Tongio M.-M., Dormoy A., Hanau D.
HLA class I deficiencies due to mutations in subunit 1 of the peptide transporter TAP1.
J. Clin. Invest. 103:R9-R13(1999)

Cross-references
Encyclopedic resources Wikidata; Q54955737
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number10