ID   GM28942
AC   CVCL_D2ZX
DR   Coriell; GM28942
DR   Wikidata; Q127380939
CC   Population: Southeast Asian; Vietnamese.
CC   Sequence variation: Mutation; HGNC; HGNC:23230; UBA5; Simple; p.Met57Val (c.169A>G); ClinVar=VCV000265755; Zygosity=Heterozygous (Coriell=GM28942).
CC   Sequence variation: Mutation; HGNC; HGNC:23230; UBA5; Simple; p.Gln312Leu (c.935A>T); Zygosity=Heterozygous (Coriell=GM28942).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C202547; Developmental and epileptic encephalopathy 44
DI   ORDO; Orphanet_442835; Non-specific early-onset epileptic encephalopathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_D2ZW ! GM28857
SX   Male
AG   2Y
CA   Transformed cell line
DT   Created: 30-01-24; Last updated: 19-12-24; Version: 3
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