ID   PSMi003-A
DR   hPSCreg; PSMi003-A
DR   Wikidata; Q54948582
RX   PubMed=29684900;
CC   From: Institution Fondazione IRCCS Policlinico San Matteo; Pavia; Italy.
CC   Sequence variation: Mutation; HGNC; 6294; KCNQ1; Simple; p.Gly179Ser (c.535G>A); ClinVar=VCV000053063; Zygosity=Homozygous (PubMed=29684900).
CC   Derived from sampling site: Skin. Cell type=Fibroblast.
DI   NCIt; C85049; Long QT syndrome 1
DI   ORDO; Orphanet_101016; Romano-Ward syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Female
AG   51Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 17-03-22; Version: 8
RX   PubMed=29684900; DOI=10.1016/j.scr.2018.04.003;
RA   Mura M., Ginevrino M., Zappatore R., Pisano F., Boni M.,
RA   Castelletti S., Crotti L., Valente E.M., Schwartz P.J., Gnecchi M.;
RT   "Generation of the human induced pluripotent stem cell (hiPSC) line
RT   PSMi003-A from a patient affected by an autosomal recessive form of
RT   long QT syndrome type 1.";
RL   Stem Cell Res. 29:170-173(2018).