ID   GM28364
AC   CVCL_C0LR
DR   Coriell; GM28364
DR   Wikidata; Q112929603
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:1388; CACNA1A; Simple; p.Arg1666Pro (c.4997G>C); ClinVar=VCV000638582; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM28364).
CC   Sequence variation: Mutation; HGNC; HGNC:6831; MANBA; Simple; p.Asn578Ilefs*47 (c.1733delT); dbSNP=rs1404226085; Zygosity=Heterozygous (Coriell=GM28364).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C188142; Developmental and epileptic encephalopathy 42
DI   ORDO; Orphanet_442835; Non-specific early-onset epileptic encephalopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   6Y
CA   Transformed cell line
DT   Created: 23-06-22; Last updated: 19-12-24; Version: 6
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