ID   ATU
AC   CVCL_B7M3
DR   Wikidata; Q112929242
RX   PubMed=10663561;
CC   Population: Turkish.
CC   Sequence variation: Mutation; HGNC; HGNC:7067; CIITA; Simple; p.Leu1051_Asp1078del (c.3153_3236del84); Zygosity=Homozygous (PubMed=10663561).
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=10663561; DOI=10.1007/s002510050007;
RA   Peijnenburg A., van den Berg R., van Eggermond M.C.J.A., Sanal O.,
RA   Vossen J.M.J.J., Lennon-Dumenil A.-M., Alcaide-Loridan C.,
RA   van den Elsen P.J.;
RT   "Defective MHC class II expression in an MHC class II deficiency
RT   patient is caused by a novel deletion of a splice donor site in the
RT   MHC class II transactivator gene.";
RL   Immunogenetics 51:42-49(2000).
//