ID   ShA
AC   CVCL_B7LM
DR   Wikidata; Q112930385
RX   PubMed=9536093;
CC   Population: Druze.
CC   Sequence variation: Mutation; HGNC; HGNC:9988; RFXAP; Simple; p.Pro12Argfs (c.35insGCGGGCG) (151ins7(GCGGGCG)fs329X); Zygosity=Homozygous (PubMed=9536093).
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
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: 5
//
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).
//