ID   GM10905
AC   CVCL_F150
DR   CLO; CLO_0023393
DR   BioSample; SAMN00800328
DR   Coriell; GM10905
DR   Wikidata; Q54844727
RX   CelloPub=CLPUB00447;
RX   PubMed=7565859;
RX   PubMed=10767341;
RX   PubMed=10771487;
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,Y
ST   D21S11: 30,32.2
ST   FGA: 23,26
ST   TH01: 7,8
ST   vWA: 15,18
DI   NCIt; C84666; De Sanctis-Cacchione syndrome
DI   ORDO; Orphanet_1569; De Sanctis-Cacchione syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_F149 ! GM10904
SX   Male
AG   10Y
CA   Finite cell line
DT   Created: 22-10-12; Last updated: 29-06-23; Version: 15
//
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=7565859; DOI=10.1016/0921-8777(95)00015-C;
RA   Volpe J.P.G., Cleaver J.E.;
RT   "Xeroderma pigmentosum variant cells are resistant to
RT   immortalization.";
RL   Mutat. Res. 337:111-117(1995).
//
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=10771487; DOI=10.1046/j.1523-1747.2000.00952.x;
RA   Itoh T., Linn S.M., Ono T., Yamaizumi M.;
RT   "Reinvestigation of the classification of five cell strains of
RT   xeroderma pigmentosum group E with reclassification of three of
RT   them.";
RL   J. Invest. Dermatol. 114:1022-1029(2000).
//