ID   GM27899
AC   CVCL_A2TV
DR   Coriell; GM27899
DR   Wikidata; Q105507400
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:11042; SLC6A1; Simple; p.Ala288Val (c.863C>T); ClinVar=VCV000192372; Zygosity=Heterozygous (Coriell=GM27899).
CC   Sequence variation: Mutation; HGNC; HGNC:12303; TRIO; Simple; p.Arg2707Ter (c.8119C>T); ClinVar=VCV000936994; Zygosity=Heterozygous (Coriell=GM27899).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C191771; SLC6A1-associated myoclonic-atonic epilepsy
DI   ORDO; Orphanet_1942; Epilepsy with myoclonic-atonic seizures
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   2Y
CA   Finite cell line
DT   Created: 12-01-21; Last updated: 10-04-25; Version: 9
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