ID   GM28411
AC   CVCL_D6XN
DR   Coriell; GM28411
CC   Population: Caucasian; English/German.
CC   Sequence variation: Mutation; HGNC; HGNC:1388; CACNA1A; Simple; p.Arg582Gln (c.1745G>A) (p.Arg583Gln, c.1748G>A); ClinVar=VCV000008505; Zygosity=Heterozygous (Coriell=GM28411).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C189277; Familial hemiplegic migraine-1
DI   ORDO; Orphanet_569; Familial or sporadic hemiplegic migraine
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   14Y
CA   Transformed cell line
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
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