ID   GM11316
AC   CVCL_U882
DR   CLO; CLO_0026056
DR   Coriell; GM11316
DR   Wikidata; Q54845000
RX   CelloPub=CLPUB00447;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 3690; FGFR3; Simple; p.Gly380Arg (c.1138G>A); ClinVar=VCV000016327; Zygosity=Homozygous (Coriell=GM11316).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C34345; Achondroplasia
DI   ORDO; Orphanet_15; Achondroplasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_U883 ! GM11317
SX   Male
AG   1D
CA   Transformed cell line
DT   Created: 16-04-14; Last updated: 30-01-24; Version: 16
//
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).
//