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Cellosaurus TD1-10749-2 (CVCL_RJ28)

[Text version]
Cell line name TD1-10749-2
Accession CVCL_RJ28
Resource Identification Initiative To cite this cell line use: TD1-10749-2 (RRID:CVCL_RJ28)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 3690; FGFR3; Simple; p.Arg248Cys (c.742C>T); ClinVar=VCV000016332; Zygosity=Heterozygous (PubMed=25231866).
Disease Thanatophoric dysplasia (NCIt: C85187)
Thanatophoric dysplasia (ORDO: Orphanet_2655)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_0Q23 (GM10749)
Sex of cell Male
Age at sampling 3D
Category Induced pluripotent stem cell
Publications

PubMed=25231866; DOI=10.1038/nature13775
Yamashita A., Morioka M., Kishi H., Kimura T., Yahara Y., Okada M., Fujita K., Sawai H., Ikegawa S., Tsumaki N.
Statin treatment rescues FGFR3 skeletal dysplasia phenotypes.
Nature 513:507-511(2014)

Cross-references
Cell line databases/resources SKIP; SKIP000813
Encyclopedic resources Wikidata; Q54971903
Entry history
Entry creation05-Mar-2018
Last entry update29-Jun-2023
Version number10