ID   GM12326
AC   CVCL_U885
DR   CLO; CLO_0019388
DR   Coriell; GM12326
DR   Wikidata; Q54845680
CC   Sequence variation: Mutation; HGNC; HGNC:3690; FGFR3; Simple; p.Gly380Arg (c.1138G>A); ClinVar=VCV000016327; Zygosity=Heterozygous (from familial inference of GM11316; GM11317).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C34345; Achondroplasia
DI   ORDO; Orphanet_15; Achondroplasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   28Y
CA   Transformed cell line
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 14
//