ID   GM27387
AC   CVCL_YE58
DR   Coriell; GM27387
DR   Wikidata; Q93933205
CC   Sequence variation: Mutation; HGNC; HGNC:1388; CACNA1A; Simple; p.Glu1979Ala (c.5936A>C); dbSNP=rs774657158; Zygosity=Heterozygous (Coriell=GM27387).
CC   Sequence variation: Mutation; HGNC; HGNC:11042; SLC6A1; Simple; p.Ser295Leu (c.884C>T); ClinVar=VCV000684489; Zygosity=Heterozygous (Coriell=GM27387).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C191771; SLC6A1-associated myoclonic-atonic epilepsy
DI   ORDO; Orphanet_1942; Myoclonic-astastic epilepsy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_YE59 ! GM27388
SX   Male
AG   1Y7M
CA   Transformed cell line
DT   Created: 19-12-19; Last updated: 19-12-24; Version: 10
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