ID   ACH-8857-1
AC   CVCL_RJ24
DR   SKIP; SKIP000815
DR   Wikidata; Q54608364
RX   PubMed=25231866;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 3690; FGFR3; Simple; p.Gly380Arg (c.1138G>A); ClinVar=VCV000016327; Zygosity=Heterozygous (PubMed=25231866).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C34345; Achondroplasia
DI   ORDO; Orphanet_15; Achondroplasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_U879 ! GM08857
SX   Male
AG   34Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 29-06-23; Version: 9
//
RX   PubMed=25231866; DOI=10.1038/nature13775;
RA   Yamashita A., Morioka M., Kishi H., Kimura T., Yahara Y., Okada M.,
RA   Fujita K., Sawai H., Ikegawa S., Tsumaki N.;
RT   "Statin treatment rescues FGFR3 skeletal dysplasia phenotypes.";
RL   Nature 513:507-511(2014).
//