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Cellosaurus GM26585 (CVCL_RT72)

[Text version]
Cell line name GM26585
Accession CVCL_RT72
Resource Identification Initiative To cite this cell line use: GM26585 (RRID:CVCL_RT72)
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.Arg401Ter (c.1201A>T); ClinVar=VCV000050962; Zygosity=Homozygous (Coriell=GM26585).
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_RT73 ! GM26586
Sex of cell Female
Age at sampling 4Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM26585
Encyclopedic resources Wikidata; Q54854104
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number10