ID   GM25990
AC   CVCL_EH30
DR   Coriell; GM25990
DR   Wikidata; Q54854056
CC   Sequence variation: Mutation; HGNC; HGNC:17646; NGLY1; Simple; p.Arg402del (c.1202_1204GAA[1]) (c.1205_1207delTTC); ClinVar=VCV000126423; Zygosity=Heterozygous (Coriell=GM25990).
CC   Sequence variation: Mutation; HGNC; HGNC:17646; NGLY1; Simple; p.Arg542Ter (c.1624C>T); ClinVar=VCV000126424; Zygosity=Heterozygous (Coriell=GM25990).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
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)
SX   Female
AG   8M
CA   Finite cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 13
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