ID   GM26611
AC   CVCL_RT92
DR   Coriell; GM26611
DR   Wikidata; Q54854130
CC   Population: Caucasian; English.
CC   Sequence variation: Mutation; HGNC; 17646; NGLY1; Simple; p.Arg401Ter (c.1201A>T); ClinVar=VCV000050962; Zygosity=Homozygous (Coriell=GM26611).
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_RT93 ! GM26612
SX   Female
AG   16Y
CA   Transformed cell line
DT   Created: 05-03-18; Last updated: 30-01-24; Version: 10
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