ID   GM25389
AC   CVCL_BX31
DR   Coriell; GM25389
DR   Wikidata; Q54853918
CC   Sequence variation: Mutation; HGNC; HGNC:17646; NGLY1; Simple; p.Arg458Lysfs*14 (c.1370dupG); ClinVar=VCV000126422; Zygosity=Homozygous (Coriell=GM25389).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C126746; Congenital disorder of deglycosylation
DI   ORDO; Orphanet_404454; Alacrimia-choreoathetosis-liver dysfunction syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_RT76 ! GM26590
SX   Female
AG   21Y
CA   Transformed cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 12
//