ID   CS1TAN
AC   CVCL_ZN59
SY   Cockayne Syndrome 1 Turkey ANkara
DR   Wikidata; Q98125732
RX   DOI=10.21954/ou.ro.0000e27e;
RX   PubMed=8834235;
RX   PubMed=9443879;
RX   PubMed=10767341;
CC   Population: Turkish.
CC   Sequence variation: Mutation; HGNC; HGNC:3438; ERCC6; Simple; p.Arg735Ter (c.2203C>T) (C2282T); ClinVar=VCV000001701; Zygosity=Homozygous (DOI=10.21954/ou.ro.0000e27e; PubMed=9443879).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=10767341
ST   Amelogenin: X,Y
ST   D21S11: 29,31.2
ST   FGA: 20,24
ST   TH01: 8,9
ST   vWA: 17,18
DI   NCIt; C135726; Cockayne syndrome type B
DI   ORDO; Orphanet_191; Cockayne syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   3Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 7
//
RX   DOI=10.21954/ou.ro.0000e27e;
RA   Mallery D.L.;
RT   "The identification and analysis of mutation in the Cockayne syndrome
RT   B gene.";
RL   Thesis PhD (1999); The Open University; Milton Keynes; United Kingdom.
//
RX   PubMed=8834235; DOI=10.1007/BF02267059;
RA   Stefanini M., Fawcett H., Botta E., Nardo T., Lehmann A.R.;
RT   "Genetic analysis of twenty-two patients with Cockayne syndrome.";
RL   Hum. Genet. 97:418-423(1996).
//
RX   PubMed=9443879; DOI=10.1086/301686; PMCID=PMC1376810;
RA   Mallery D.L., Tanganelli B., Colella S., Steingrimsdottir H.,
RA   van Gool A.J., Troelstra C., Stefanini M., Lehmann A.R.;
RT   "Molecular analysis of mutations in the CSB (ERCC6) gene in patients
RT   with Cockayne syndrome.";
RL   Am. J. Hum. Genet. 62:77-85(1998).
//
RX   PubMed=10767341; DOI=10.1093/hmg/9.8.1171;
RA   Colella S., Nardo T., Botta E., Lehmann A.R., Stefanini M.;
RT   "Identical mutations in the CSB gene associated with either Cockayne
RT   syndrome or the DeSanctis-Cacchione variant of xeroderma
RT   pigmentosum.";
RL   Hum. Mol. Genet. 9:1171-1175(2000).
//