ID   GM18666
AC   CVCL_AB23
DR   CLO; CLO_0026190
DR   Coriell; GM18666
DR   Wikidata; Q54849751
CC   Sequence variation: Mutation; HGNC; HGNC:3690; FGFR3; Simple; p.Asn540Lys (c.1620C>A); ClinVar=VCV000016337; Zygosity=Heterozygous (Coriell=GM18666).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C118697; Hypochondroplasia
DI   ORDO; Orphanet_429; Hypochondroplasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   2Y
CA   Transformed cell line
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 12
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