ID   OSE
AC   CVCL_B7M8
DR   Wikidata; Q114312639
RX   PubMed=10079298;
CC   Population: Turkish.
CC   Sequence variation: Mutation; HGNC; HGNC:9986; RFX5; Simple; p.Gln51Metfs*32 (c.151_154delCAAG); Zygosity=Homozygous (PubMed=10079298).
CC   Genetic integration: Method=Transfection; Gene=UniProtKB; P03070; SV40 large T antigen.
CC   Genetic integration: Method=Transfection; Gene=UniProtKB; P00552; Transposon Tn5 neo.
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40) (Note=pSVori-).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
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)
AG   Children
CA   Transformed cell line
DT   Created: 23-06-22; Last updated: 19-12-24; Version: 7
//
RX   PubMed=10079298; DOI=10.1007/s002510050501;
RA   Peijnenburg A., van Eggermond M.C.J.A., van den Berg R., Sanal O.,
RA   Vossen J.M.J.J., van den Elsen P.J.;
RT   "Molecular analysis of an MHC class II deficiency patient reveals a
RT   novel mutation in the RFX5 gene.";
RL   Immunogenetics 49:338-345(1999).
//