ID   CS4PV
AC   CVCL_YQ72
SY   Cockayne Syndrome 4 PaVia
DR   Wikidata; Q93459124
RX   PubMed=17297471;
RX   PubMed=29572252;
CC   Sequence variation: Mutation; HGNC; HGNC:3439; ERCC8; Simple; p.Asn75Glnfs*9 (c.223_227del5); ClinVar=VCV001455112; 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   3Y
CA   Finite cell line
DT   Created: 12-03-20; Last updated: 19-12-24; Version: 8
//
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=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).
//