ID   GM26598
AC   CVCL_RT66
DR   Coriell; GM26598
DR   Wikidata; Q54854116
CC   Sequence variation: Mutation; HGNC; HGNC:17646; NGLY1; Simple; p.Ser116Ter (c.347C>G); ClinVar=VCV000221579; Zygosity=Heterozygous (Coriell=GM26598).
CC   Sequence variation: Mutation; HGNC; HGNC:17646; NGLY1; Simple; c.881+5G>T (IVS5+5G>T); ClinVar=VCV000221584; Zygosity=Heterozygous (Coriell=GM26598).
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_EH31 ! GM25596
SX   Male
AG   15Y
CA   Finite cell line
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 12
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