Cellosaurus logo
expasy logo

Cellosaurus GM08909 (CVCL_0Q08)

[Text version]
Cell line name GM08909
Accession CVCL_0Q08
Resource Identification Initiative To cite this cell line use: GM08909 (RRID:CVCL_0Q08)
Comments Population: African American.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 3690; FGFR3; Simple; p.Ser249Cys (c.746C>G); ClinVar=VCV000016339; Zygosity=Heterozygous (Coriell=GM08909).
Disease Thanatophoric dysplasia (NCIt: C85187)
Thanatophoric dysplasia (ORDO: Orphanet_2655)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 1D
Category Finite cell line
Publications

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

Cross-references
Cell line collections (Providers) Coriell; GM08909
Cell line databases/resources CLO; CLO_0011219
Biological sample resources BioSample; SAMN00798264
Encyclopedic resources Wikidata; Q54843397
Entry history
Entry creation10-Apr-2015
Last entry update30-Jan-2024
Version number14