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; 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: 19-12-24; Version: 9
//
RX   PubMed=31398660; DOI=10.1016/j.scr.2019.101510;
RA   Mura, Manuela
RA   Pisano, Federica
RA   Stefanello, Manuela
RA   Ginevrino, Monia
RA   Boni, Marina
RA   Calabro, Federica
RA   Crotti, Lia
RA   Valente, Enza Maria
RA   Schwartz, Peter J.
RA   Brink, Paul A.
RA   Gnecchi, Massimiliano
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).
//