ID   GM27288
AC   CVCL_YN37
DR   Coriell; GM27288
DR   Wikidata; Q93933148
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:23089; SLC13A5; Simple; p.Gly219Arg (c.655G>A); ClinVar=VCV000140752; Zygosity=Heterozygous (Coriell=GM27288).
CC   Sequence variation: Mutation; HGNC; HGNC:23089; SLC13A5; Simple; p.Leu492Pro (c.1475T>C); ClinVar=VCV000375390; Zygosity=Heterozygous (Coriell=GM27288).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C168597; Developmental and epileptic encephalopathy 25
DI   ORDO; Orphanet_442835; Non-specific early-onset epileptic encephalopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   14Y
CA   Transformed cell line
DT   Created: 12-03-20; Last updated: 19-12-24; Version: 11
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