ID   MUSIi009-A-1
AC   CVCL_YI90
SY   p.A735V-SCN5A hiPSC_4.3
DR   hPSCreg; MUSIi009-A-1
DR   Wikidata; Q95991529
RX   PubMed=31677524;
CC   From: Faculty of Medicine Siriraj Hospital, Mahidol University; Bangkok; Thailand.
CC   Sequence variation: Homozygous for SCN5A p.Ala735Val (c.2204C>T); by CRISPR/Cas9 (PubMed=31677524).
CC   Derived from sampling site: Skin.
DI   NCIt; C142891; Brugada syndrome
DI   ORDO; Orphanet_130; Brugada syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens
HI   CVCL_WU23 ! MUSIi009-A
SX   Male
AG   Fetus
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 02-07-20; Version: 3
//
RX   PubMed=31677524; DOI=10.1016/j.scr.2019.101618;
RA   Angsutararux P., Luanpitpong S., Chingsuwanrote P., Supraditaporn K.,
RA   Waeteekul S., Terbto P., Lorthongpanich C., Laowtammathron C.,
RA   U-Pratya Y., Issaragrisil S.;
RT   "Generation of human induced pluripotent stem cell line carrying
RT   SCN5AC2204>T Brugada mutation (MUSli009-A-1) introduced by
RT   CRISPR/Cas9-mediated genome editing.";
RL   Stem Cell Res. 41:101618-101618(2019).
//