ID   CS6PV
AC   CVCL_YQ73
SY   Cockayne Syndrome 6 PaVia
DR   Wikidata; Q93459139
RX   PubMed=17297471;
RX   PubMed=19329487;
RX   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   Female
AG   1Y
CA   Finite cell line
DT   Created: 12-03-20; Last updated: 29-06-23; Version: 5
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RX   PubMed=29572252; DOI=10.1136/jmedgenet-2017-104877;
RA   Calmels, Nadege
RA   Botta, Elena
RA   Jia, Nan
RA   Fawcett, Heather
RA   Nardo, Tiziana
RA   Nakazawa, Yuka
RA   Lanzafame, Manuela
RA   Moriwaki, Shinichi
RA   Sugita, Katsuo
RA   Kubota, Masaya
RA   Obringer, Cathy
RA   Spitz, Marie-Aude
RA   Stefanini, Miria
RA   Laugel, Vincent
RA   Orioli, Donata
RA   Ogi, Tomoo
RA   Lehmann, Alan Robert
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).
//
RX   PubMed=17297471; DOI=10.1038/sj.onc.1210232;
RA   D'Errico, Mariarosaria
RA   Parlanti, Eleonora
RA   Teson, Massimo
RA   Degan, Paolo
RA   Lemma, Tiziana
RA   Calcagnile, Angelo Salvatore
RA   Iavarone, Ivano
RA   Jaruga, Pawel
RA   Ropolo, Monica
RA   Pedrini, Antonia M.
RA   Orioli, Donata
RA   Frosina, Guido
RA   Zambruno, Giovanna
RA   Dizdaroglu, Miral
RA   Stefanini, Miria
RA   Dogliotti, Eugenia
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, Tiziana
RA   Oneda, Roberta
RA   Spivak, Graciela
RA   Vaz, Bruno
RA   Mortier, Laurent
RA   Thomas, Pierre
RA   Orioli, Donata
RA   Laugel, Vincent
RA   Stary, Anne
RA   Hanawalt, Philip Courtland
RA   Sarasin, Alain
RA   Stefanini, Miria
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).
//