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Cellosaurus GM25990 (CVCL_EH30)

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Cell line name GM25990
Accession CVCL_EH30
Resource Identification Initiative To cite this cell line use: GM25990 (RRID:CVCL_EH30)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:17646; NGLY1; Simple; p.Arg402del (c.1202_1204GAA[1]) (c.1205_1207delTTC); ClinVar=VCV000126423; Zygosity=Heterozygous (Coriell=GM25990).
  • Mutation; HGNC; HGNC:17646; NGLY1; Simple; p.Arg542Ter (c.1624C>T); ClinVar=VCV000126424; Zygosity=Heterozygous (Coriell=GM25990).
Disease Congenital disorder of deglycosylation (NCIt: C126746)
Alacrimia-choreoathetosis-liver dysfunction syndrome (ORDO: Orphanet_404454)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 8M
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM25990
Encyclopedic resources Wikidata; Q54854056
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number13