ID   GM28920
AC   CVCL_D6Z3
SY   GM28920*C
DR   Coriell; GM28920
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:23089; SLC13A5; Simple; p.Gly219Arg (c.655G>A); ClinVar=VCV000140752; Zygosity=Heterozygous (Coriell=GM28920).
CC   Sequence variation: Mutation; HGNC; HGNC:23089; SLC13A5; Simple; p.Leu492Pro (c.1475T>C); ClinVar=VCV000375390; Zygosity=Heterozygous (Coriell=GM28920).
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)
HI   CVCL_YN37 ! GM27288
SX   Female
AG   14Y
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
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