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Cellosaurus ACHhomo-8859-3 (CVCL_RJ26)

[Text version]
Cell line name ACHhomo-8859-3
Accession CVCL_RJ26
Resource Identification Initiative To cite this cell line use: ACHhomo-8859-3 (RRID:CVCL_RJ26)
Comments Population: Caucasian.
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.Gly380Arg (c.1138G>A); ClinVar=VCV000016327; Zygosity=Homozygous (PubMed=25231866).
Disease Achondroplasia (NCIt: C34345)
Achondroplasia (ORDO: Orphanet_15)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_U881 (GM08859)
Sex of cell Female
Age at sampling 1M
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; SKIP000817
Encyclopedic resources Wikidata; Q54608368
Entry history
Entry creation05-Mar-2018
Last entry update29-Jun-2023
Version number9