ID   ZM LCL
AC   CVCL_B7LH
DR   Wikidata; Q112930596
RX   PubMed=9287230;
RX   PubMed=9536093;
CC   Population: Moroccan.
CC   Sequence variation: Mutation; HGNC; HGNC:9988; RFXAP; Simple; p.Ser123Thrfs*15 (c.368delG) (484delG); ClinVar=VCV000007651; Zygosity=Homozygous (PubMed=9287230).
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)
OI   CVCL_B7LG ! ZM fibroblast
AG   Children
CA   Transformed cell line
DT   Created: 23-06-22; Last updated: 19-12-24; Version: 6
//
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).
//