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Cellosaurus BCH (CVCL_B7K8)

[Text version]
Cell line name BCH
Accession CVCL_B7K8
Resource Identification Initiative To cite this cell line use: BCH (RRID:CVCL_B7K8)
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:7067; CIITA; Simple; p.Glu381Ter (c.1141G>T) (G1256T); ClinVar=VCV000009541; Zygosity=Heterozygous (PubMed=9099848).
  • Mutation; HGNC; HGNC:7067; CIITA; Simple; c.3317+1G>A (IVS18DS,G-A,+1) (del3349-3432); ClinVar=VCV000009542; Zygosity=Heterozygous (PubMed=9099848).
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=1852002; DOI=10.1073/pnas.88.10.4285; PMCID=PMC51643
Benichou B., Strominger J.L.
Class II-antigen-negative patient and mutant B-cell lines represent at least three, and probably four, distinct genetic defects defined by complementation analysis.
Proc. Natl. Acad. Sci. U.S.A. 88:4285-4288(1991)

PubMed=1864634; DOI=10.3109/08820139109050783
Mannhalter J.W., Wolf H.M., Gadner H., Potschka M., Eibl M.M.
Cell-mediated immune functions in a patient with MHC class II deficiency.
Immunol. Invest. 20:151-167(1991)

PubMed=9099848; DOI=10.1007/s004390050403
Bontron S., Steimle V., Ucla C., Eibl M.M., Mach B.
Two novel mutations in the MHC class II transactivator CIITA in a second patient from MHC class II deficiency complementation group A.
Hum. Genet. 99:541-546(1997)

Cross-references
Encyclopedic resources Wikidata; Q112929281
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number5