ID   GM26601
AC   CVCL_RT84
DR   Coriell; GM26601
DR   Wikidata; Q54854119
CC   Population: Caucasian; German.
CC   Sequence variation: Mutation; HGNC; 17646; NGLY1; Simple; p.Leu318Pro (c.953T>C); Zygosity=Heterozygous (Coriell=GM26601).
CC   Sequence variation: Mutation; HGNC; 17646; NGLY1; Simple; p.Arg390Pro (c.1169G>C); ClinVar=VCV000221580; Zygosity=Heterozygous (Coriell=GM26601).
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_RT85 ! GM26602
SX   Male
AG   2Y
CA   Transformed cell line
DT   Created: 05-03-18; Last updated: 30-01-24; Version: 10
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