ID   ABI
AC   CVCL_B7LJ
SY   ABI-T1.5
DR   Wikidata; Q112929123
RX   PubMed=7721350;
RX   PubMed=9287230;
RX   PubMed=9536093;
CC   Population: Turkish.
CC   Sequence variation: Mutation; HGNC; HGNC:9988; RFXAP; Simple; p.Gln55Ter (c.163C>T); ClinVar=VCV000007652; Zygosity=Homozygous (PubMed=9287230).
CC   Genetic integration: Method=Transfection; Gene=UniProtKB; P03070; SV40 large T antigen.
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40) (Note=pSVori-).
CC   Derived from site: In situ; Amnion; UBERON=UBERON_0000305.
CC   Cell type: Fibroblast; CL=CL_0000057.
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   <1D
CA   Transformed cell line
DT   Created: 23-06-22; Last updated: 19-12-24; Version: 7
//
RX   PubMed=7721350; DOI=10.1007/BF00172153;
RA   Peijnenburg A., Godthelp B.C., van Boxel-Dezaire A.H.H.,
RA   van den Elsen P.J.;
RT   "Definition of a novel complementation group in MHC class II
RT   deficiency.";
RL   Immunogenetics 41:287-294(1995).
//
RX   PubMed=9287230; DOI=10.1056/NEJM199709113371104;
RA   Villard J., Lisowska-Grospierre B., van den Elsen P.J., Fischer A.,
RA   Reith W., Mach B.;
RT   "Mutation of RFXAP, a regulator of MHC class II genes, in primary MHC
RT   class II deficiency.";
RL   N. Engl. J. Med. 337:748-753(1997).
//
RX   PubMed=9536093; DOI=10.1093/hmg/7.5.879;
RA   Fondaneche M.-C., Villard J., Wiszniewski W., Jouanguy E., Etzioni A.,
RA   Le Deist F., Peijnenburg A., Casanova J.-L., Reith W., Mach B.,
RA   Fischer A., Lisowska-Grospierre B.;
RT   "Genetic and molecular definition of complementation group D in MHC
RT   class II deficiency.";
RL   Hum. Mol. Genet. 7:879-885(1998).
//