ID   GM26602
AC   CVCL_RT85
DR   Coriell; GM26602
DR   Wikidata; Q54854120
CC   Population: Caucasian; German.
CC   Sequence variation: Mutation; HGNC; 17646; NGLY1; Simple; p.Leu318Pro (c.953T>C); Zygosity=Heterozygous (Coriell=GM26602).
CC   Sequence variation: Mutation; HGNC; 17646; NGLY1; Simple; p.Arg390Pro (c.1169G>C); ClinVar=VCV000221580; Zygosity=Heterozygous (Coriell=GM26602).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
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_RT84 ! GM26601
SX   Male
AG   2Y
CA   Finite cell line
DT   Created: 05-03-18; Last updated: 30-01-24; Version: 11
//