Cellosaurus cell line FZA (CVCL

Cross-references
Cell line name	FZA
Accession	CVCL_B7K4
Resource Identification Initiative	To cite this cell line use: FZA (RRID:CVCL_B7K4)
Comments	Genetic integration: Method=Transfection; Gene=UniProtKB; P03070; SV40 large T antigen. Genetic integration: Method=Transfection; Gene=UniProtKB; P00552; Transposon Tn5 neo. 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:9987; RFXANK; Simple; p.Leu195Pro (c.584T>C); ClinVar=VCV000827735; Zygosity=Homozygous (PubMed=10725724).
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)
Sex of cell	Male
Age at sampling	14Y
Category	Transformed cell line
Publications	PubMed=10725724; DOI=10.4049/jimmunol.164.7.3666 Nagarajan U.M., Peijnenburg A., Gobin S.J.P., Boss J.M., van den Elsen P.J. Novel mutations within the RFX-B gene and partial rescue of MHC and related genes through exogenous class II transactivator in RFX-B-deficient cells. J. Immunol. 164:3666-3674(2000)
Encyclopedic resources	Wikidata; Q112929575
Entry history
Entry creation	23-Jun-2022
Last entry update	19-Dec-2024
Version number	6