ID   TD1-315H-2
AC   CVCL_RJ29
DR   SKIP; SKIP000814
DR   Wikidata; Q54971904
RX   PubMed=25231866;
CC   Sequence variation: Mutation; HGNC; HGNC:3690; FGFR3; Simple; p.Arg248Cys (c.742C>T); ClinVar=VCV000016332; Zygosity=Heterozygous (PubMed=25231866).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C85187; Thanatophoric dysplasia
DI   ORDO; Orphanet_2655; Thanatophoric dysplasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   21FW
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 11
//
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).
//