ID   GM28854
AC   CVCL_D3AF
DR   Coriell; GM28854
DR   Wikidata; Q127380928
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:1388; CACNA1A; Simple; p.Arg1345Ter (c.4033C>T) (p.Arg1346Ter, c.4036C>T) (R1346*); ClinVar=VCV000585570; Zygosity=Heterozygous (Coriell=GM28854).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C202603; Episodic ataxia type 2
DI   ORDO; Orphanet_97; Familial paroxysmal ataxia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   32Y
CA   Transformed cell line
DT   Created: 30-01-24; Last updated: 19-12-24; Version: 3
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