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Cellosaurus GM10688 (CVCL_0Q17)

[Text version]
Cell line name GM10688
Accession CVCL_0Q17
Resource Identification Initiative To cite this cell line use: GM10688 (RRID:CVCL_0Q17)
Comments Population: Caucasian.
Karyotypic information: 46,XY,inv(9)(pter->p11::q13->p11::q13->qter) (Coriell=GM10688).
Derived from site: In situ; Fetus; UBERON=UBERON_0000323.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:3690; FGFR3; Simple; p.Arg248Cys (c.742C>T); ClinVar=VCV000016332; Zygosity=Heterozygous (Coriell=GM10688).
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 22FW
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; GM10688
Cell line databases/resources CLO; CLO_0024623
Biological sample resources BioSample; SAMN00800156
Encyclopedic resources Wikidata; Q54844591
Entry history
Entry creation10-Apr-2015
Last entry update19-Dec-2024
Version number16