ID   UVSS1VI
AC   CVCL_ZP12
SY   UV-Sensitive Syndrome 1 VIllejuif
DR   Wikidata; Q98134436
RX   PubMed=19329487;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3439; ERCC8; Simple; p.Trp361Cys (c.1083G>T); ClinVar=VCV000068752; Zygosity=Homozygous (PubMed=19329487).
CC   Derived from site: In situ; Buttock, skin; UBERON=UBERON_8480014.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C173110; UV-sensitive syndrome 2
DI   ORDO; Orphanet_178338; UV-sensitive syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   9Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 7
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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).
//