ID   Fern
AC   CVCL_B7LZ
DR   Wikidata; Q112929561
RX   PubMed=10501838;
CC   Sequence variation: Mutation; HGNC; HGNC:7067; CIITA; Simple; p.Phe962Ser (c.2885T>C) (F961S); Zygosity=Homozygous (PubMed=10501838).
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)
AG   27Y
CA   Transformed cell line
DT   Created: 23-06-22; Last updated: 19-12-24; Version: 5
//
RX   PubMed=10501838; DOI=10.1007/s002510050579;
RA   Quan V., Towey M., Sacks S., Kelly A.P.;
RT   "Absence of MHC class II gene expression in a patient with a single
RT   amino acid substitution in the class II transactivator protein
RT   CIITA.";
RL   Immunogenetics 49:957-963(1999).
//