ID   UKKi030-C
AC   CVCL_RM73
SY   NP0134-26B
DR   BioSamples; SAMEA104494412
DR   EBiSC; UKKi030-C
DR   ECACC; 66540877
DR   hPSCreg; UKKi030-C
DR   Wikidata; Q54990510
CC   From: Institute for Neurophysiology, Medical Faculty, University of Cologne; Cologne; Germany.
CC   Sequence variation: Mutation; HGNC; 10593; SCN5A; Simple; p.Gln646Argfs*5 (c.1936delC); ClinVar=VCV000179829; Zygosity=Heterozygous (EBiSC=UKKi030-C).
CC   Discontinued: ECACC; 66540877; true.
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)
OI   CVCL_RM71 ! UKKi030-A
OI   CVCL_RM72 ! UKKi030-B
SX   Male
AG   65-69Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 30-01-24; Version: 11
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