ID   GM08909
AC   CVCL_0Q08
DR   CLO; CLO_0011219
DR   BioSample; SAMN00798264
DR   Coriell; GM08909
DR   Wikidata; Q54843397
RX   CelloPub=CLPUB00447;
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; 3690; FGFR3; Simple; p.Ser249Cys (c.746C>G); ClinVar=VCV000016339; Zygosity=Heterozygous (Coriell=GM08909).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C85187; Thanatophoric dysplasia
DI   ORDO; Orphanet_2655; Thanatophoric dysplasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   1D
CA   Finite cell line
DT   Created: 10-04-15; Last updated: 30-01-24; Version: 14
//
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).
//