ID   GM26612
AC   CVCL_RT93
DR   Coriell; GM26612
DR   Wikidata; Q54854131
CC   Population: Caucasian; English.
CC   Sequence variation: Mutation; HGNC; 17646; NGLY1; Simple; p.Arg401Ter (c.1201A>T); ClinVar=VCV000050962; Zygosity=Homozygous (Coriell=GM26612).
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_RT92 ! GM26611
SX   Female
AG   16Y
CA   Finite cell line
DT   Created: 05-03-18; Last updated: 30-01-24; Version: 11
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