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Cellosaurus GM26601 (CVCL_RT84)

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Cell line name GM26601
Accession CVCL_RT84
Resource Identification Initiative To cite this cell line use: GM26601 (RRID:CVCL_RT84)
Comments Population: Caucasian; German.
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.Leu318Pro (c.953T>C); ClinVar=VCV003769564; Zygosity=Heterozygous (Coriell=GM26601).
  • Mutation; HGNC; HGNC:17646; NGLY1; Simple; p.Arg390Pro (c.1169G>C); ClinVar=VCV000221580; Zygosity=Heterozygous (Coriell=GM26601).
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_RT85 ! GM26602
Sex of cell Male
Age at sampling 2Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM26601
Encyclopedic resources Wikidata; Q54854119
Entry history
Entry creation05-Mar-2018
Last entry update14-Aug-2025
Version number12