ID   GM17723
AC   CVCL_AB41
DR   CLO; CLO_0016990
DR   Coriell; GM17723
DR   Wikidata; Q54849121
CC   Sequence variation: Mutation; HGNC; HGNC:10933; SLC17A5; Simple; p.Arg39Cys (c.115C>T); ClinVar=VCV000005615; Zygosity=Homozygous (Coriell=GM17723).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C85067; Sialic acid storage disease
DI   ORDO; Orphanet_834; Free sialic acid storage disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   34Y
CA   Transformed cell line
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 12
//