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Cellosaurus BLS-1.DR5 (CVCL_9W23)

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Cell line name BLS-1.DR5
Accession CVCL_9W23
Resource Identification Initiative To cite this cell line use: BLS-1.DR5 (RRID:CVCL_9W23)
Comments Genetic integration: Method=Transfection; Gene=HGNC; HGNC:4947; HLA-DRA.
Genetic integration: Method=Transfection; Gene=HGNC; HGNC:4948; HLA-DRB1 (Note=Allele DRB1*11:01).
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
Susan Kovats, Sheila Drover, William H. Marshall, Daniel Freed, Phyllis E. Whiteley, Gerald T. Nepom, Janice S. Blum;
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
Susan Kovats, Gerald T. Nepom, Morton Coleman, Barbara S. Nepom, William W. Kwok, Janice S. Blum;
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; Q54797422
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number10