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Cellosaurus GM28411 (CVCL_D6XN)

[Text version]
Cell line name GM28411
Accession CVCL_D6XN
Resource Identification Initiative To cite this cell line use: GM28411 (RRID:CVCL_D6XN)
Comments Population: Caucasian; English/German.
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.Arg582Gln (c.1745G>A) (p.Arg583Gln, c.1748G>A); ClinVar=VCV000008505; Zygosity=Heterozygous (Coriell=GM28411).
Disease Familial hemiplegic migraine-1 (NCIt: C189277)
Familial or sporadic hemiplegic migraine (ORDO: Orphanet_569)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 14Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM28411
Entry history
Entry creation10-Sep-2024
Last entry update19-Dec-2024
Version number2