ID   CS3BR
AC   CVCL_ZN63
SY   Cockayne Syndrome 3 BRighton
DR   Wikidata; Q98125751
RX   PubMed=7825573;
RX   PubMed=8834235;
RX   PubMed=29572252;
CC   Sequence variation: Mutation; HGNC; HGNC:3439; ERCC8; Simple; p.Leu271Pro (c.812T>C); ClinVar=VCV000354015; Zygosity=Homozygous (PubMed=29572252).
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   Male
AG   2Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 7
//
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).
//
RX   PubMed=29572252; DOI=10.1136/jmedgenet-2017-104877;
RA   Calmels N., Botta E., Jia N., Fawcett H., Nardo T., Nakazawa Y.,
RA   Lanzafame M., Moriwaki S., Sugita K., Kubota M., Obringer C.,
RA   Spitz M.-A., Stefanini M., Laugel V., Orioli D., Ogi T., Lehmann A.R.;
RT   "Functional and clinical relevance of novel mutations in a large
RT   cohort of patients with Cockayne syndrome.";
RL   J. Med. Genet. 55:329-343(2018).
//