ID   GM10904
AC   CVCL_F149
DR   CLO; CLO_0023396
DR   BioSample; SAMN00800326
DR   Coriell; GM10904
DR   Wikidata; Q54844726
RX   CelloPub=CLPUB00447;
CC   Population: Mexican.
CC   Sequence variation: Mutation; HGNC; HGNC:3438; ERCC6; Simple; p.Arg735Ter (c.2203C>T) (C2282T); ClinVar=VCV000001701; Zygosity=Homozygous (Coriell=GM10904).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84666; De Sanctis-Cacchione syndrome
DI   ORDO; Orphanet_1569; De Sanctis-Cacchione syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_F150 ! GM10905
SX   Male
AG   10Y
CA   Transformed cell line
DT   Created: 22-10-12; Last updated: 19-12-24; Version: 17
//
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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//