Cellosaurus cell line AkO (CVCL

Cross-references
Cell line name	AkO
Accession	CVCL_B7LL
Resource Identification Initiative	To cite this cell line use: AkO (RRID:CVCL_B7LL)
Comments	Population: Turkish. 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:9988; RFXAP; Simple; p.Gln55Ter (c.163C>T); ClinVar=VCV000007652; Zygosity=Homozygous (PubMed=9536093).
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=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)
Encyclopedic resources	Wikidata; Q112929233
Entry history
Entry creation	23-Jun-2022
Last entry update	19-Dec-2024
Version number	5