ID   PSMi001-A
AC   CVCL_WJ40
SY   SA6.27-iPS; SA 6.27
DR   hPSCreg; PSMi001-A
DR   Wikidata; Q98128683
RX   PubMed=31398660;
CC   From: Institution Fondazione IRCCS Policlinico San Matteo; Pavia; Italy.
CC   Sequence variation: Mutation; HGNC; 6294; KCNQ1; Simple; p.Ala341Val (c.1022C>T) (p.Ala214Val, c.641C>T); ClinVar=VCV000003121; Zygosity=Heterozygous (PubMed=31398660).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   53Y
CA   Induced pluripotent stem cell
DT   Created: 24-05-19; Last updated: 29-06-23; Version: 8
//
RX   PubMed=31398660; DOI=10.1016/j.scr.2019.101510;
RA   Mura M., Pisano F., Stefanello M., Ginevrino M., Boni M., Calabro F.,
RA   Crotti L., Valente E.M., Schwartz P.J., Brink P.A., Gnecchi M.;
RT   "Generation of two human induced pluripotent stem cell (hiPSC) lines
RT   from a long QT syndrome South African founder population.";
RL   Stem Cell Res. 39:101510-101510(2019).
//