Cellosaurus cell line VIP2 (CVCL

Cross-references
Cell line name	VIP2
Accession	CVCL_B7KA
Resource Identification Initiative	To cite this cell line use: VIP2 (RRID:CVCL_B7KA)
Comments	Population: Caucasian; Austrian. 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=20197681).
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	Children
Category	Transformed cell line
Publications	PubMed=20197681; DOI=10.1159/000288292 Schmetterer K.G., Seidel M.G., Kormoczi U., Rottal A., Schwarz K., Matthes-Martin S., Steinberger P., Pickl W.F. Two newly diagnosed HLA class II-deficient patients identified by rapid vector-based complementation analysis reveal discoordinate invariant chain expression levels. Int. Arch. Allergy Immunol. 152:390-400(2010)
Encyclopedic resources	Wikidata; Q112930544
Entry history
Entry creation	23-Jun-2022
Last entry update	19-Dec-2024
Version number	6