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Cellosaurus BLS-1.DR4 (CVCL_9W22)

[Text version]
Cell line name BLS-1.DR4
Synonyms BLS-1.DR4w4
Accession CVCL_9W22
Resource Identification Initiative To cite this cell line use: BLS-1.DR4 (RRID:CVCL_9W22)
Comments Genetic integration: Method=Transfection; Gene=HGNC; HGNC:4947; HLA-DRA.
Genetic integration: Method=Transfection; Gene=HGNC; HGNC:4948; HLA-DRB1 (Note=Allele DRB1*04:01).
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 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 (from parent cell line).
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 Parent: CVCL_9W20 (BLS-1)
Sex of cell Male
Age at sampling 1Y
Category Transformed cell line
Publications

PubMed=8195723; DOI=10.1084/jem.179.6.2017; PMCID=PMC2191518
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; PMCID=PMC185191
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)

Cross-references
Encyclopedic resources Wikidata; Q54797421
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number10