ID   CS1PV
AC   CVCL_L862
SY   Cockayne Syndrome 1 PaVia
DR   CLO; CLO_0002621
DR   CLDB; cl917
DR   Wikidata; Q54814532
RX   PubMed=8823375;
RX   PubMed=8834235;
RX   PubMed=19329487;
CC   From: Istituto di Genetica Biochimica ed Evoluzionistica (IGBE); Pavia; Italy.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C135726; Cockayne syndrome type B
DI   ORDO; Orphanet_191; Cockayne syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   9Y
CA   Finite cell line
DT   Created: 06-05-13; Last updated: 29-06-23; Version: 10
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RX   PubMed=8834235; DOI=10.1007/BF02267059;
RA   Stefanini, Miria
RA   Fawcett, Heather
RA   Botta, Elena
RA   Nardo, Tiziana
RA   Lehmann, Alan Robert
RT   "Genetic analysis of twenty-two patients with Cockayne syndrome.";
RL   Hum. Genet. 97:418-423(1996).
//
RX   PubMed=8823375; DOI=10.1111/1523-1747.ep12584287;
RA   Moriwaki, Shin-ichi
RA   Stefanini, Miria
RA   Lehmann, Alan Robert
RA   Hoeijmakers, Jan Hendrik Jozef
RA   Robbins, Jay H.
RA   Rapin, Isabelle
RA   Botta, Elena
RA   Tanganelli, Bianca
RA   Vermeulen, Wim
RA   Broughton, Bernard C.
RA   Kraemer, Kenneth H.
RT   "DNA repair and ultraviolet mutagenesis in cells from a new patient
RT   with xeroderma pigmentosum group G and Cockayne syndrome resemble
RT   xeroderma pigmentosum cells.";
RL   J. Invest. Dermatol. 107:647-653(1996).
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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).
//