Cellosaurus cell line DA (CVCL

Cellosaurus DA (CVCL_B7LK)

Cross-references
Cell line name	DA
Accession	CVCL_B7LK
Resource Identification Initiative	To cite this cell line use: DA (RRID:CVCL_B7LK)
Comments	Population: Algerian. Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV). Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:9988; RFXAP; Simple; p.Ser123Thrfs*15 (c.368delG) (484delG); ClinVar=VCV000007651; Zygosity=Homozygous (PubMed=9118943; PubMed=9287230).
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	1-2Y
Category	Transformed cell line
Publications	PubMed=7021490; DOI=10.1016/0198-8859(81)90061-6 Touraine J.-L., Betuel H. Immunodeficiency diseases and expression of HLA antigens. Hum. Immunol. 2:147-153(1981) PubMed=9118943; DOI=10.1093/emboj/16.5.1045; PMCID=PMC1169704 Durand B., Sperisen P., Emery P., Barras E., Zufferey M., Mach B., Reith W. RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency. EMBO J. 16:1045-1055(1997) 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)
Encyclopedic resources	Wikidata; Q112929440
Entry history
Entry creation	23-Jun-2022
Last entry update	19-Dec-2024
Version number	6