Cellosaurus logo
expasy logo

Cellosaurus GM10749 (CVCL_0Q23)

[Text][XML][JSON]
Cell line name GM10749
Accession CVCL_0Q23
Resource Identification Initiative To cite this cell line use: GM10749 (RRID:CVCL_0Q23)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:3690; FGFR3; Simple; p.Arg248Cys (c.742C>T); ClinVar=VCV000016332; Zygosity=Heterozygous (Coriell=GM10749).
Disease Thanatophoric dysplasia (NCIt: C85187)
Thanatophoric dysplasia (ORDO: Orphanet_2655)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_RJ28 (TD1-10749-2)
Sex of cell Male
Age at sampling 3D
Category Finite cell line
Publications

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
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; GM10749
Cell line databases/resources CLO; CLO_0023674
Biological sample resources BioSample; SAMN00800190
Encyclopedic resources Wikidata; Q54844634
Entry history
Entry creation10-Apr-2015
Last entry update19-Dec-2024
Version number16