ID   GM08858
AC   CVCL_U880
DR   CLO; CLO_0010443
DR   BioSample; SAMN00798238
DR   Coriell; GM08858
DR   Wikidata; Q54843341
RX   CelloPub=CLPUB00447;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:3690; FGFR3; Simple; p.Gly380Arg (c.1138G>A); ClinVar=VCV000016327; Zygosity=Heterozygous (Coriell=GM08858).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C34345; Achondroplasia
DI   ORDO; Orphanet_15; Achondroplasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   30Y
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 19-12-24; 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).
//