ID   BBANTWi007-A
AC   CVCL_B3NM
SY   iPSC_BrS10_FB_C3; BrS10 C3
DR   BioSamples; SAMEA11423532
DR   hPSCreg; BBANTWi007-A
DR   Wikidata; Q110432591
RX   PubMed=35247843;
CC   From: Biobank Antwerpen; Antwerp; Belgium.
CC   Population: Caucasian; Belgian.
CC   Sequence variation: Mutation; HGNC; 10593; SCN5A; Simple; c.4714+95GGGT[3] (c.4813+3_4813+6dupGGGT); ClinVar=VCV000254157; Zygosity=Heterozygous (PubMed=35247843).
CC   Derived from site: In situ; Arm, skin, dermis; UBERON=UBERON_0002427+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   Female
AG   46Y
CA   Induced pluripotent stem cell
DT   Created: 16-12-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=35247843; DOI=10.1016/j.scr.2022.102719;
RA   Simons E., Nijak A., Loeys B.L., Alaerts M.;
RT   "Generation of two induced pluripotent stem cell (iPSC) lines
RT   (BBANTWi006-A, BBANTWi007-A) from Brugada syndrome patients carrying
RT   an SCN5A mutation.";
RL   Stem Cell Res. 60:102719-102719(2022).
//