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Cellosaurus GM27387 (CVCL_YE58)

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Cell line name GM27387
Accession CVCL_YE58
Resource Identification Initiative To cite this cell line use: GM27387 (RRID:CVCL_YE58)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:1388; CACNA1A; Simple; p.Glu1979Ala (c.5936A>C); ClinVar=VCV002505064; Zygosity=Heterozygous (Coriell=GM27387).
  • Mutation; HGNC; HGNC:11042; SLC6A1; Simple; p.Ser295Leu (c.884C>T); ClinVar=VCV000684489; Zygosity=Heterozygous (Coriell=GM27387).
Disease SLC6A1-associated myoclonic-atonic epilepsy (NCIt: C191771)
Epilepsy with myoclonic-atonic seizures (ORDO: Orphanet_1942)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_YE59 ! GM27388
Sex of cell Male
Age at sampling 1Y7M
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM27387
Encyclopedic resources Wikidata; Q93933205
Entry history
Entry creation19-Dec-2019
Last entry update27-Nov-2025
Version number12