ID   CS7PV
AC   CVCL_YQ74
SY   Cockayne Syndrome 7 PaVia
DR   Wikidata; Q93459145
RX   PubMed=17297471;
RX   PubMed=19329487;
RX   PubMed=29572252;
CC   Sequence variation: Mutation; HGNC; HGNC:3439; ERCC8; Simple; c.719-1G>A; dbSNP=rs1239745117; Zygosity=Homozygous; Note=Splice acceptor mutation (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   4Y
CA   Finite cell line
DT   Created: 12-03-20; Last updated: 19-12-24; Version: 9
//
RX   PubMed=17297471; DOI=10.1038/sj.onc.1210232;
RA   D'Errico M., Parlanti E., Teson M., Degan P., Lemma T., Calcagnile A.S.,
RA   Iavarone I., Jaruga P., Ropolo M., Pedrini A.M., Orioli D.,
RA   Frosina G., Zambruno G., Dizdaroglu M., Stefanini M., Dogliotti E.;
RT   "The role of CSA in the response to oxidative DNA damage in human
RT   cells.";
RL   Oncogene 26:4336-4343(2007).
//
RX   PubMed=19329487; DOI=10.1073/pnas.0902113106; PMCID=PMC2667150;
RA   Nardo T., Oneda R., Spivak G., Vaz B., Mortier L., Thomas P.,
RA   Orioli D., Laugel V., Stary A., Hanawalt P.C., Sarasin A.,
RA   Stefanini M.;
RT   "A UV-sensitive syndrome patient with a specific CSA mutation reveals
RT   separable roles for CSA in response to UV and oxidative DNA damage.";
RL   Proc. Natl. Acad. Sci. U.S.A. 106:6209-6214(2009).
//
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).
//