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Cellosaurus ABI (CVCL_B7LJ)

[Text version]
Cell line name ABI
Synonyms ABI-T1.5
Accession CVCL_B7LJ
Resource Identification Initiative To cite this cell line use: ABI (RRID:CVCL_B7LJ)
Comments Population: Turkish.
Genetic integration: Method=Transfection; Gene=UniProtKB; P03070; SV40 large T antigen.
Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40) (Note=pSVori-).
Derived from site: In situ; Amnion; UBERON=UBERON_0000305.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
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 <1D
Category Transformed cell line
Publications

PubMed=7721350; DOI=10.1007/BF00172153
Peijnenburg A., Godthelp B.C., van Boxel-Dezaire A.H.H., van den Elsen P.J.
Definition of a novel complementation group in MHC class II deficiency.
Immunogenetics 41:287-294(1995)

PubMed=9287230; DOI=10.1056/NEJM199709113371104
Villard J., Lisowska-Grospierre B., van den Elsen P.J., Fischer A., Reith W., Mach B.
Mutation of RFXAP, a regulator of MHC class II genes, in primary MHC class II deficiency.
N. Engl. J. Med. 337:748-753(1997)

PubMed=9536093; DOI=10.1093/hmg/7.5.879
Fondaneche M.-C., Villard J., Wiszniewski W., Jouanguy E., Etzioni A., Le Deist F., Peijnenburg A., Casanova J.-L., Reith W., Mach B., Fischer A., Lisowska-Grospierre B.
Genetic and molecular definition of complementation group D in MHC class II deficiency.
Hum. Mol. Genet. 7:879-885(1998)

Cross-references
Encyclopedic resources Wikidata; Q112929123
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number7