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Cellosaurus GM26249 (CVCL_LH30)

[Text version]
Cell line name GM26249
Accession CVCL_LH30
Resource Identification Initiative To cite this cell line use: GM26249 (RRID:CVCL_LH30)
Comments Population: Jewish; Ashkenazi.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 29331; EPG5; Simple; p.Gln336Arg (c.1007A>G); ClinVar=VCV000192333; Zygosity=Homozygous (Coriell=GM26249).
Disease Vici syndrome (NCIt: C138174)
Vici syndrome (ORDO: Orphanet_1493)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_LH34 ! GM26636
Sex of cell Male
Age at sampling 10Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM26249
Encyclopedic resources Wikidata; Q54854091
Entry history
Entry creation15-Nov-2017
Last entry update30-Jan-2024
Version number10