ID   GM28627
AC   CVCL_C7P6
DR   Coriell; GM28627
DR   Wikidata; Q117704448
CC   Population: Caucasian; Polish.
CC   Sequence variation: Mutation; HGNC; HGNC:23794; PACS2; Simple; p.Glu209Lys (c.625G>A); ClinVar=VCV000495141; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM28627).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   ORDO; Orphanet_442835; Non-specific early-onset epileptic encephalopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_C7P2 ! GM28610
SX   Female
AG   7M
CA   Transformed cell line
DT   Created: 21-03-23; Last updated: 19-12-24; Version: 4
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