ID   IDIBGIi004-A
AC   CVCL_B5TE
SY   RB20236
DR   BioSamples; SAMEA12362304
DR   hPSCreg; IDIBGIi004-A
DR   Wikidata; Q111733481
RX   PubMed=35772296;
CC   From: Institut d'Investigacio Biomedica de Girona Dr. Josep Trueta; Salt; Spain.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 10593; SCN5A; Simple; p.Val1525Met (c.4573G>A) (p.Val1524Met, c.4570G>A); ClinVar=VCV000067910; Zygosity=Heterozygous (PubMed=35772296).
CC   Derived from site: In situ; Back, skin; UBERON=UBERON_0001068.
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   45Y
CA   Induced pluripotent stem cell
DT   Created: 17-03-22; Last updated: 29-06-23; Version: 5
//
RX   PubMed=35772296; DOI=10.1016/j.scr.2022.102847;
RA   Martinez-Moreno R., Carreras D., Aran B., Kuebler B.,
RA   Sarquella-Brugada G., Brugada R., Perez G.J., Scornik F.S., Selga E.;
RT   "Generation of four induced pluripotent stem cell lines from a family
RT   harboring a single nucleotide variant in SCN5A.";
RL   Stem Cell Res. 63:102847-102847(2022).
//