ID   GM10903
AC   CVCL_F146
DR   CLO; CLO_0023395
DR   BioSample; SAMN00800324
DR   Coriell; GM10903
DR   Wikidata; Q54844725
RX   CelloPub=CLPUB00447;
RX   PubMed=10767341;
RX   PubMed=22661500;
CC   Population: Mexican.
CC   Sequence variation: Mutation; HGNC; 3438; ERCC6; Simple; p.Arg735Ter (c.2203C>T) (C2282T); ClinVar=VCV000001701; Zygosity=Homozygous (PubMed=10767341).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=10767341
ST   Amelogenin: X
ST   D21S11: 31.2,32.2
ST   FGA: 23,26
ST   TH01: 7,8
ST   vWA: 18,19
DI   NCIt; C84666; De Sanctis-Cacchione syndrome
DI   ORDO; Orphanet_1569; De Sanctis-Cacchione syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_7504 ! GM10902
SX   Female
AG   9Y
CA   Finite cell line
DT   Created: 22-10-12; Last updated: 29-06-23; Version: 17
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RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   PubMed=10767341; DOI=10.1093/hmg/9.8.1171;
RA   Colella S., Nardo T., Botta E., Lehmann A.R., Stefanini M.;
RT   "Identical mutations in the CSB gene associated with either Cockayne
RT   syndrome or the DeSanctis-Cacchione variant of xeroderma
RT   pigmentosum.";
RL   Hum. Mol. Genet. 9:1171-1175(2000).
//
RX   PubMed=22661500; DOI=10.1093/hmg/dds211;
RA   de Sousa Andrade L.N., Nathanson J.L., Yeo G.W., Menck C.F.M.,
RA   Muotri A.R.;
RT   "Evidence for premature aging due to oxidative stress in iPSCs from
RT   Cockayne syndrome.";
RL   Hum. Mol. Genet. 21:3825-3834(2012).
//