Cellosaurus cell line ACHhomo-8859-3 (CVCL

Cross-references
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; 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)
Cell line databases/resources	SKIP; SKIP000817
Encyclopedic resources	Wikidata; Q54608368
Entry history
Entry creation	05-Mar-2018
Last entry update	19-Dec-2024
Version number	10