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Cellosaurus BRE (CVCL_A5NF)

[Text version]
Cell line name BRE
Accession CVCL_A5NF
Resource Identification Initiative To cite this cell line use: BRE (RRID:CVCL_A5NF)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:43; TAP1; Simple; p.Asp273fs (c.819delC); Zygosity=Homozygous (PubMed=10074495).
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)
Hierarchy Children:
CVCL_A282 (BRE-169)
Sex of cell Male
Age at sampling 16-20Y
Category Finite cell line
Publications

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; Q107113507
Entry history
Entry creation20-May-2021
Last entry update19-Dec-2024
Version number6