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Cellosaurus GM25389 (CVCL_BX31)

[Text version]
Cell line name GM25389
Accession CVCL_BX31
Resource Identification Initiative To cite this cell line use: GM25389 (RRID:CVCL_BX31)
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.Arg458Lysfs*14 (c.1370dupG); ClinVar=VCV000126422; Zygosity=Homozygous (Coriell=GM25389).
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_RT76 ! GM26590
Sex of cell Female
Age at sampling 21Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM25389
Encyclopedic resources Wikidata; Q54853918
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number12