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Cellosaurus GM25596 (CVCL_EH31)

[Text version]
Cell line name GM25596
Accession CVCL_EH31
Resource Identification Initiative To cite this cell line use: GM25596 (RRID:CVCL_EH31)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:17646; NGLY1; Simple; p.Ser116Ter (c.347C>G); ClinVar=VCV000221579; Zygosity=Heterozygous (Coriell=GM25596).
  • Mutation; HGNC; HGNC:17646; NGLY1; Simple; c.881+5G>T (IVS5+5G>T); ClinVar=VCV000221584; Zygosity=Heterozygous (Coriell=GM25596).
Disease Congenital disorder of deglycosylation (NCIt: C126746)
Alacrimia-choreoathetosis-liver dysfunction syndrome (ORDO: Orphanet_404454)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_RT66 ! GM26598
Sex of cell Male
Age at sampling 15Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM25596
Encyclopedic resources Wikidata; Q54854023
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number13