ID   CS1BR
AC   CVCL_ZN61
SY   Cockayne Syndrome 1 BRighton
DR   Wikidata; Q98125728
RX   PubMed=18079351;
RX   PubMed=29572252;
CC   Sequence variation: Mutation; HGNC; HGNC:3439; ERCC8; Simple; p.Val161Ile (c.481G>A); ClinVar=VCV000645783; 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   Sex unspecified
AG   Age unspecified
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 7
//
RX   PubMed=18079351; DOI=10.1259/bjr/27072321;
RA   Arlett C.F., Green M.H.L., Rogers P.B., Lehmann A.R., Plowman P.N.;
RT   "Minimal ionizing radiation sensitivity in a large cohort of xeroderma
RT   pigmentosum fibroblasts.";
RL   Br. J. Radiol. 81:51-58(2008).
//
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).
//