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Cellosaurus GM28854 (CVCL_D3AF)

[Text version]
Cell line name GM28854
Accession CVCL_D3AF
Resource Identification Initiative To cite this cell line use: GM28854 (RRID:CVCL_D3AF)
Comments Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:1388; CACNA1A; Simple; p.Arg1345Ter (c.4033C>T) (p.Arg1346Ter, c.4036C>T) (R1346*); ClinVar=VCV000585570; Zygosity=Heterozygous (Coriell=GM28854).
Disease Episodic ataxia type 2 (NCIt: C202603)
Familial paroxysmal ataxia (ORDO: Orphanet_97)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 32Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM28854
Encyclopedic resources Wikidata; Q127380928
Entry history
Entry creation30-Jan-2024
Last entry update19-Dec-2024
Version number3