ID   CBRCULi016-A
AC   CVCL_D1FY
SY   SCN5A p.R219H-14C; SCN5A p.R219H clone 14C
DR   BioSamples; SAMEA114425089
DR   hPSCreg; CBRCULi016-A
DR   Wikidata; Q127380402
RX   PubMed=38232626;
CC   From: CERVO Brain Research Centre, Universite Laval; Quebec; Canada.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 10593; SCN5A; Simple; p.Arg219His (c.656G>A); ClinVar=VCV000242206; Zygosity=Heterozygous (PubMed=38232626).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C142891; Brugada syndrome
DI   ORDO; Orphanet_130; Brugada syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   29Y
CA   Induced pluripotent stem cell
DT   Created: 30-01-24; Last updated: 10-09-24; Version: 3
//
RX   PubMed=38232626; DOI=10.1016/j.scr.2024.103308;
RA   Djemai M., Jauvin D., Poulin H., Chapotte-Baldacci C.-A., Chahine M.;
RT   "Generation of a patient-specific iPSC cell line with cardiac
RT   arrhythmias and dilated cardiomyopathy (CBRCULi016-A), an isogenic
RT   control (CBRCULi016-A-1), and a paternal control (CBRCULi017-A).";
RL   Stem Cell Res. 75:103308-103308(2024).
//