ID   GM28857
AC   CVCL_D2ZW
DR   Coriell; GM28857
DR   Wikidata; Q127380930
CC   Population: Southeast Asian; Vietnamese.
CC   Sequence variation: Mutation; HGNC; HGNC:23230; UBA5; Simple; p.Met57Val (c.169A>G); ClinVar=VCV000265755; Zygosity=Heterozygous (Coriell=GM28857).
CC   Sequence variation: Mutation; HGNC; HGNC:23230; UBA5; Simple; p.Gln312Leu (c.935A>T); Zygosity=Heterozygous (Coriell=GM28857).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
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_D2ZX ! GM28942
SX   Male
AG   2Y
CA   Finite cell line
DT   Created: 30-01-24; Last updated: 19-12-24; Version: 3
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