| Cell line name |
BCH |
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| Accession |
CVCL_B7K8 |
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| Resource Identification Initiative |
To cite this cell line use: BCH (RRID:CVCL_B7K8) |
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| Comments |
Population: Caucasian; Austrian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178. |
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| 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).
|
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| Disease |
Bare lymphocyte syndrome type 2 (NCIt: C171268)
Immunodeficiency by defective expression of MHC class II (ORDO: Orphanet_572) |
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
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| Sex of cell |
Male |
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| Age at sampling |
Children |
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| Category |
Transformed cell line |
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| Publications | PubMed=1852002; DOI=10.1073/pnas.88.10.4285; PMCID=PMC51643
Bernard Benichou, Jack Leonard Strominger;
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
Josef W. Mannhalter, Hermann M. Wolf, Helmut Gadner, Martin Potschka, Martha Marianne Eibl;
Cell-mediated immune functions in a patient with MHC class II deficiency.
Immunol. Invest. 20:151-167(1991) PubMed=9099848; DOI=10.1007/s004390050403
Severine Bontron, Viktor Steimle, Catherine Ucla, Martha Marianne Eibl, Bernard Mach;
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) |
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| Cross-references |
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| Encyclopedic resources |
Wikidata; Q112929281
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| Entry history |
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| Entry creation | 23-Jun-2022 |
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| Last entry update | 19-Dec-2024 |
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| Version number | 5 |
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