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Cellosaurus GM28627 (CVCL_C7P6)

[Text version]
Cell line name GM28627
Accession CVCL_C7P6
Resource Identification Initiative To cite this cell line use: GM28627 (RRID:CVCL_C7P6)
Comments Population: Caucasian; Polish.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:23794; PACS2; Simple; p.Glu209Lys (c.625G>A); ClinVar=VCV000495141; Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM28627).
Disease Non-specific early-onset epileptic encephalopathy (ORDO: Orphanet_442835)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_C7P2 ! GM28610
Sex of cell Female
Age at sampling 7M
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM28627
Encyclopedic resources Wikidata; Q117704448
Entry history
Entry creation21-Mar-2023
Last entry update19-Dec-2024
Version number4