ID   CS6BR
AC   CVCL_ZN79
SY   Cockayne Syndrome 6 BRighton
DR   Wikidata; Q98125767
RX   PubMed=7664335;
RX   PubMed=7825573;
RX   PubMed=8834235;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3439; ERCC8; Unexplicit; Mutation in splice donor site of intron 9; Zygosity=Homozygous (PubMed=7664335).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C135725; Cockayne syndrome type A
DI   ORDO; Orphanet_191; Cockayne syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   5Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 8
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RX   PubMed=7664335; DOI=10.1016/0092-8674(95)90028-4;
RA   Henning K.A., Li L., Iyer N., McDaniel L.D., Reagan M.S., Legerski R.J.,
RA   Schultz R.A., Stefanini M., Lehmann A.R., Mayne L.V., Friedberg E.C.;
RT   "The Cockayne syndrome group A gene encodes a WD repeat protein that
RT   interacts with CSB protein and a subunit of RNA polymerase II TFIIH.";
RL   Cell 82:555-564(1995).
//
RX   PubMed=7825573; PMCID=PMC1801309;
RA   Broughton B.C., Thompson A.F., Harcourt S.A., Vermeulen W.,
RA   Hoeijmakers J.H.J., Botta E., Stefanini M., King M.D., Weber C.A.,
RA   Cole J., Arlett C.F., Lehmann A.R.;
RT   "Molecular and cellular analysis of the DNA repair defect in a patient
RT   in xeroderma pigmentosum complementation group D who has the clinical
RT   features of xeroderma pigmentosum and Cockayne syndrome.";
RL   Am. J. Hum. Genet. 56:167-174(1995).
//
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).
//