ID   GM08373
AC   CVCL_W033
DR   CLO; CLO_0010537
DR   BioSample; SAMN00798036
DR   Coriell; GM08373
DR   Wikidata; Q54843183
RX   CelloPub=CLPUB00447;
CC   Population: Caucasian; Italian.
CC   Sequence variation: Mutation; HGNC; 438; ALPL; Simple; p.Ala33Val (c.98C>T) (A16V, 274T); ClinVar=VCV000013667; Zygosity=Unspecified (from autologous cell line GM08690).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C26798; Hypophosphatasia
DI   ORDO; Orphanet_436; Hypophosphatasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_W034 ! GM08435
OI   CVCL_W036 ! GM08690
SX   Female
AG   1Y
CA   Transformed cell line
DT   Created: 16-04-14; 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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//