ID   GM27388
AC   CVCL_YE59
DR   Coriell; GM27388
DR   Wikidata; Q93933208
CC   Sequence variation: Mutation; HGNC; HGNC:1388; CACNA1A; Simple; p.Glu1979Ala (c.5936A>C); dbSNP=rs774657158; Zygosity=Heterozygous (Coriell=GM27388).
CC   Sequence variation: Mutation; HGNC; HGNC:11042; SLC6A1; Simple; p.Ser295Leu (c.884C>T); ClinVar=VCV000684489; Zygosity=Heterozygous (Coriell=GM27388).
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; Myoclonic-astastic epilepsy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_YE58 ! GM27387
SX   Male
AG   1Y7M
CA   Finite cell line
DT   Created: 19-12-19; Last updated: 19-12-24; Version: 11
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