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Cellosaurus BLS-1 (CVCL_9W20)

[Text version]
Cell line name BLS-1
Synonyms BLS1
Accession CVCL_9W20
Resource Identification Initiative To cite this cell line use: BLS-1 (RRID:CVCL_9W20)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 9987; RFXANK; Unexplicit; 58-bp deletion that removes the last 23-bp and the splice donor site of exon 6; ClinVar=VCV000006598; Zygosity=Homozygous (PubMed=9806546).
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)
Hierarchy Children:
CVCL_9W22 (BLS-1.DR4)CVCL_9W23 (BLS-1.DR5)
Sex of cell Male
Age at sampling 1Y
Category Transformed cell line
Publications

PubMed=2511169; DOI=10.1016/0198-8859(89)90007-4
Hume C.R., Lee J.S.
Congenital immunodeficiencies associated with absence of HLA class II antigens on lymphocytes result from distinct mutations in trans-acting factors.
Hum. Immunol. 26:288-309(1989)

PubMed=2785516; DOI=10.1016/0198-8859(89)90065-7
Hume C.R., Shookster L.A., Collins N.H., O'Reilly R.J., Lee J.S.
Bare lymphocyte syndrome: altered HLA class II expression in B cell lines derived from two patients.
Hum. Immunol. 25:1-11(1989)

PubMed=1852002; DOI=10.1073/pnas.88.10.4285
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=1538137; DOI=10.4049/jimmunol.148.5.1576
Seidl C., Saraiya C., Osterweil Z., Fu Y.P., Lee J.S.
Genetic complexity of regulatory mutants defective for HLA class II gene expression.
J. Immunol. 148:1576-1584(1992)

PubMed=8195723; DOI=10.1084/jem.179.6.2017
Kovats S., Drover S., Marshall W.H., Freed D., Whiteley P.E., Nepom G.T., Blum J.S.
Coordinate defects in human histocompatibility leukocyte antigen class II expression and antigen presentation in bare lymphocyte syndrome.
J. Exp. Med. 179:2017-2022(1994)

PubMed=7615790; DOI=10.1172/JCI118023
Kovats S., Nepom G.T., Coleman M., Nepom B., Kwok W.W., Blum J.S.
Deficient antigen-presenting cell function in multiple genetic complementation groups of type II bare lymphocyte syndrome.
J. Clin. Invest. 96:217-223(1995)

PubMed=9806546; DOI=10.1038/3081
Masternak K., Barras E., Zufferey M., Conrad B., Corthals G.L., Aebersold R., Sanchez J.-C., Hochstrasser D.F., Mach B., Reith W.
A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients.
Nat. Genet. 20:273-277(1998)

Cross-references
Encyclopedic resources Wikidata; Q54797418
Entry history
Entry creation23-Feb-2016
Last entry update29-Jun-2023
Version number8