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Cellosaurus GM26611 (CVCL_RT92)

[Text version]
Cell line name GM26611
Accession CVCL_RT92
Resource Identification Initiative To cite this cell line use: GM26611 (RRID:CVCL_RT92)
Comments Population: Caucasian; English.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 17646; NGLY1; Simple; p.Arg401Ter (c.1201A>T); ClinVar=VCV000050962; Zygosity=Homozygous (Coriell=GM26611).
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_RT93 ! GM26612
Sex of cell Female
Age at sampling 16Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM26611
Encyclopedic resources Wikidata; Q54854130
Entry history
Entry creation05-Mar-2018
Last entry update30-Jan-2024
Version number10