ID   FAMRCi012-A
AC   CVCL_E3YE
SY   Brug/VT-83
DR   BioSamples; SAMEA116046782
DR   hPSCreg; FAMRCi012-A
CC   From: Federal Almazov North-West Medical Research Centre; St. Petersburg; Russia.
CC   Sequence variation: Mutation; HGNC; HGNC:10593; SCN5A; Simple; p.Ser805Leu (c.2414C>T); ClinVar=VCV000452038; Zygosity=Heterozygous (hPSCreg=FAMRCi012-A).
CC   Omics: Variations; Array-based CGH.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C142891; Brugada syndrome
DI   ORDO; Orphanet_130; Brugada syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
CA   Induced pluripotent stem cell
DT   Created: 19-12-24; Last updated: 10-04-25; Version: 2
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