ID   IDIBGIi003-A
AC   CVCL_B5TD
SY   RB20235; RB20235-C5; Rb20235-C5
DR   BioSamples; SAMEA12362202
DR   hPSCreg; IDIBGIi003-A
DR   Wikidata; Q111733480
RX   PubMed=35772296;
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/0/Anexo_dep%C3%B3sito_Rb20235-C5.pdf
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Documento_Deposito_Lineas_Rb20235-C5.pdf
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Institut d'Investigacio Biomedica de Girona Dr. Josep Trueta; Salt; Spain.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 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, dermis; UBERON=UBERON_0001068+UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): BNLC
ST   Amelogenin: X,Y
ST   CSF1PO: 10,11
ST   D13S317: 9,12
ST   D16S539: 13
ST   D21S11: 27,32.2
ST   D5S818: 10,11
ST   D7S820: 8,9
ST   TH01: 6,9.3
ST   TPOX: 9,11
ST   vWA: 15,16
DI   NCIt; C142891; Brugada syndrome
DI   ORDO; Orphanet_130; Brugada syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   11Y
CA   Induced pluripotent stem cell
DT   Created: 17-03-22; Last updated: 10-04-25; Version: 7
//
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).
//