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Cellosaurus GM25340 (CVCL_BX24)

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Cell line name GM25340
Accession CVCL_BX24
Resource Identification Initiative To cite this cell line use: GM25340 (RRID:CVCL_BX24)
Comments Population: Caucasian; German/Polish and Hispanic.
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=Heterozygous (Coriell=GM25340).
  • Mutation; HGNC; HGNC:17646; NGLY1; Simple; p.Gln631Serfs*7 (c.1891delC); ClinVar=VCV000050961; Zygosity=Heterozygous (Coriell=GM25340).
Disease Congenital disorder of deglycosylation (NCIt: C126746)
Alacrimia-choreoathetosis-liver dysfunction syndrome (ORDO: Orphanet_404454)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 6Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM25340
Encyclopedic resources Wikidata; Q54853878
Entry history
Entry creation13-Jul-2016
Last entry update14-Aug-2025
Version number15