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Cellosaurus GM27388 (CVCL_YE59)

[Text version]
Cell line name GM27388
Accession CVCL_YE59
Resource Identification Initiative To cite this cell line use: GM27388 (RRID:CVCL_YE59)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:1388; CACNA1A; Simple; p.Glu1979Ala (c.5936A>C); dbSNP=rs774657158; Zygosity=Heterozygous (Coriell=GM27388).
  • Mutation; HGNC; HGNC:11042; SLC6A1; Simple; p.Ser295Leu (c.884C>T); ClinVar=VCV000684489; Zygosity=Heterozygous (Coriell=GM27388).
Disease SLC6A1-associated myoclonic-atonic epilepsy (NCIt: C191771)
Myoclonic-astastic epilepsy (ORDO: Orphanet_1942)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_YE58 ! GM27387
Sex of cell Male
Age at sampling 1Y7M
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM27388
Encyclopedic resources Wikidata; Q93933208
Entry history
Entry creation19-Dec-2019
Last entry update19-Dec-2024
Version number11