ID   BLS-1.DR4
AC   CVCL_9W22
SY   BLS-1.DR4w4
DR   Wikidata; Q54797421
RX   PubMed=7615790;
RX   PubMed=8195723;
CC   Sequence variation: 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).
CC   Genetic integration: Method=Transfection; Gene=HGNC; HGNC:4947; HLA-DRA.
CC   Genetic integration: Method=Transfection; Gene=HGNC; HGNC:4948; HLA-DRB1 (Note=Allele DRB1*04:01).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C171268; Bare lymphocyte syndrome type 2
DI   ORDO; Orphanet_572; Immunodeficiency by defective expression of MHC class II
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_9W20 ! BLS-1
SX   Male
AG   1Y
CA   Transformed cell line
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 10
//
RX   PubMed=7615790; DOI=10.1172/JCI118023; PMCID=PMC185191;
RA   Kovats S., Nepom G.T., Coleman M., Nepom B., Kwok W.W., Blum J.S.;
RT   "Deficient antigen-presenting cell function in multiple genetic
RT   complementation groups of type II bare lymphocyte syndrome.";
RL   J. Clin. Invest. 96:217-223(1995).
//
RX   PubMed=8195723; DOI=10.1084/jem.179.6.2017; PMCID=PMC2191518;
RA   Kovats S., Drover S., Marshall W.H., Freed D., Whiteley P.E.,
RA   Nepom G.T., Blum J.S.;
RT   "Coordinate defects in human histocompatibility leukocyte antigen
RT   class II expression and antigen presentation in bare lymphocyte
RT   syndrome.";
RL   J. Exp. Med. 179:2017-2022(1994).
//