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Cellosaurus GM27899 (CVCL_A2TV)

[Text version]
Cell line name GM27899
Accession CVCL_A2TV
Resource Identification Initiative To cite this cell line use: GM27899 (RRID:CVCL_A2TV)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:11042; SLC6A1; Simple; p.Ala288Val (c.863C>T); ClinVar=VCV000192372; Zygosity=Heterozygous (Coriell=GM27899).
  • Mutation; HGNC; HGNC:12303; TRIO; Simple; p.Arg2707Ter (c.8119C>T); ClinVar=VCV000936994; Zygosity=Heterozygous (Coriell=GM27899).
Disease SLC6A1-associated myoclonic-atonic epilepsy (NCIt: C191771)
Myoclonic-astastic epilepsy (ORDO: Orphanet_1942)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 2Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM27899
Encyclopedic resources Wikidata; Q105507400
Entry history
Entry creation12-Jan-2021
Last entry update19-Dec-2024
Version number8