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Cellosaurus SaE fibroblast (CVCL_B7LV)

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Cell line name SaE fibroblast
Accession CVCL_B7LV
Resource Identification Initiative To cite this cell line use: SaE fibroblast (RRID:CVCL_B7LV)
Comments Population: Caucasian; Greek.
Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:7067; CIITA; Simple; p.Leu469Pro (c.1406T>C) (T1524C); Zygosity=Homozygous (from autologous cell line SaE LCL).
Disease Bare lymphocyte syndrome type 2 (NCIt: C171268)
Immunodeficiency by defective expression of MHC class II (ORDO: Orphanet_572)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_B7LW ! SaE LCL
Sex of cell Female
Age at sampling 15Y
Category Transformed cell line
Publications

PubMed=11466404; DOI=10.4049/jimmunol.167.3.1787
Wojciech Wiszniewski, Marie-Claude Fondaneche, Francoise Le Deist, Maria Kanariou, Francoise Selz, Nicole Brousse, Viktor Steimle, Giovanna Barbieri, Catherine Alcaide-Loridan, Dominique Charron, Alain Fischer, Barbara Lisowska-Grospierre;
Mutation in the class II trans-activator leading to a mild immunodeficiency.
J. Immunol. 167:1787-1794(2001)

Cross-references
Encyclopedic resources Wikidata; Q114312949
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number5