ID   GM10440
AC   CVCL_EG73
DR   CLO; CLO_0028523
DR   BioSample; SAMN00800025
DR   Coriell; GM10440
DR   Wikidata; Q54844470
RX   CelloPub=CLPUB00447;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 3356; ENPP1; Simple; p.Pro305Thr (c.913C>A); ClinVar=VCV000029842; Zygosity=Homozygous (Coriell=GM10440).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C128805; Generalized arterial calcification of infancy 1
DI   ORDO; Orphanet_51608; Generalized arterial calcification of infancy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_EG72 ! GM10439
SX   Female
AG   29FW
CA   Transformed cell line
DT   Created: 13-07-16; Last updated: 30-01-24; Version: 13
//
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).
//