ID   GM28545
AC   CVCL_C0M9
DR   Coriell; GM28545
DR   Wikidata; Q112929623
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:1388; CACNA1A; Simple; p.Val1392Met (c.4174G>A); ClinVar=VCV000195935; Zygosity=Heterozygous (Coriell=GM28545).
CC   Sequence variation: Mutation; HGNC; HGNC:7470; MT-RNR1; Simple; m.963C>T; Zygosity=Homoplasmic (Coriell=GM28545).
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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