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Cellosaurus STF-1 (CVCL_A5NE)

[Text version]
Cell line name STF-1
Accession CVCL_A5NE
Resource Identification Initiative To cite this cell line use: STF-1 (RRID:CVCL_A5NE)
Comments Population: Moroccan.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:44; TAP2; Simple; p.Arg273Ter (c.817C>T) (R253*); ClinVar=VCV000013727; Zygosity=Homozygous (from autologous cell line ST-EMO).
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_F744 (STF1-169)
Originate from same individual CVCL_DP21 ! ST-EMO
Sex of cell Male
Age at sampling 6Y
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)

PubMed=10229096; DOI=10.1002/(SICI)1521-4141(199904)29:04<1286::AID-IMMU1286>3.0.CO;2-L
Zimmer J., Donato L., Hanau D., Cazenave J.-P., Moretta A., Tongio M.-M., de la Salle H.
Inefficient protection of human TAP-deficient fibroblasts from autologous NK cell-mediated lysis by cytokines inducing HLA class I expression.
Eur. J. Immunol. 29:1286-1291(1999)

Cross-references
Encyclopedic resources Wikidata; Q107116958
Entry history
Entry creation20-May-2021
Last entry update19-Dec-2024
Version number7