ID   AG07076
AC   CVCL_0N65
DR   CLO; CLO_0035648
DR   Coriell; AG07076
DR   Wikidata; Q54740532
RX   CelloPub=CLPUB00597;
RX   PubMed=12665480;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3439; ERCC8; Simple; p.Glu13Ter (c.37G>T); ClinVar=VCV000001716; Zygosity=Heterozygous (from autologous cell line AG07075).
CC   Sequence variation: Mutation; HGNC; HGNC:3439; ERCC8; Simple; p.Ala205Pro (c.613G>C); ClinVar=VCV000001718; Zygosity=Heterozygous (from autologous cell line AG07075).
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)
OI   CVCL_0N64 ! AG07075
SX   Female
AG   10Y10M
CA   Finite cell line
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 14
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RX   CelloPub=CLPUB00597;
RG   National Institute on Aging;
RT   "1994 catalog of cell lines. NIA Aging Cell Repository.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-351; National Institutes of Health; Bethesda; USA (1994).
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RX   PubMed=12665480; DOI=10.1096/fj.02-0851com;
RA   Tuo J.-S., Jaruga P., Rodriguez H., Bohr V.A., Dizdaroglu M.;
RT   "Primary fibroblasts of Cockayne syndrome patients are defective in
RT   cellular repair of 8-hydroxyguanine and 8-hydroxyadenine resulting
RT   from oxidative stress.";
RL   FASEB J. 17:668-674(2003).
//