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Cellosaurus ATU (CVCL_B7M3)

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Cell line name ATU
Accession CVCL_B7M3
Resource Identification Initiative To cite this cell line use: ATU (RRID:CVCL_B7M3)
Comments Population: Turkish.
Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40) (Note=pSVori-).
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.Leu1051_Asp1078del (c.3153_3236del84); Zygosity=Homozygous (PubMed=10663561).
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)
Age at sampling Children
Category Transformed cell line
Publications

PubMed=10663561; DOI=10.1007/s002510050007
Ad Peijnenburg, Rian van den Berg, Marja C.J.A. van Eggermond, Ozden Sanal, Jaak M.J.J. Vossen, Ana-Maria Lennon-Dumenil, Catherine Alcaide-Loridan, Peter J. van den Elsen;
Defective MHC class II expression in an MHC class II deficiency patient is caused by a novel deletion of a splice donor site in the MHC class II transactivator gene.
Immunogenetics 51:42-49(2000)

Cross-references
Encyclopedic resources Wikidata; Q112929242
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number7