ID   GM28102
AC   CVCL_B0IL
DR   Coriell; GM28102
DR   Wikidata; Q108820310
CC   Population: Caucasian; Norwegian.
CC   Sequence variation: Mutation; HGNC; HGNC:11042; SLC6A1; Simple; p.Asp52Asn (c.154G>A); ClinVar=VCV001804228; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM28102).
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)
SX   Male
AG   3Y
CA   Finite cell line
DT   Created: 23-09-21; Last updated: 19-12-24; Version: 8
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