ID   GM20941
AC   CVCL_DB02
DR   CLO; CLO_0015368
DR   Coriell; GM20941
DR   Wikidata; Q54851483
CC   Sequence variation: Mutation; HGNC; HGNC:2995; DPAGT1; Simple; p.Tyr170Cys (c.509A>G) (660A>G); ClinVar=VCV000012296; Zygosity=Heterozygous (Coriell=GM20941).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C126874; Congenital disorder of glycosylation type Ij
DI   ORDO; Orphanet_86309; DPAGT1-CDG
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Children
CA   Transformed cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 12
//