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Cellosaurus FAMRCi012-A (CVCL_E3YE)

[Text version]
Cell line name FAMRCi012-A
Synonyms Brug/VT-83
Accession CVCL_E3YE
Resource Identification Initiative To cite this cell line use: FAMRCi012-A (RRID:CVCL_E3YE)
Comments From: Federal Almazov North-West Medical Research Centre; St. Petersburg; Russia.
Omics: Array-based CGH.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:10593; SCN5A; Simple; p.Ser805Leu (c.2414C>T); ClinVar=VCV000452038; Zygosity=Heterozygous (hPSCreg=FAMRCi012-A).
Disease Brugada syndrome (NCIt: C142891)
Brugada syndrome (ORDO: Orphanet_130)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; FAMRCi012-A
Biological sample resources BioSample; SAMEA116046782
Entry history
Entry creation19-Dec-2024
Last entry update19-Dec-2024
Version number1