ID   PSMi004-A
AC   CVCL_WJ36
SY   HDF28-LQT1-iPS
DR   hPSCreg; PSMi004-A
DR   Wikidata; Q98128684
RX   PubMed=30974404;
CC   From: Institution Fondazione IRCCS Policlinico San Matteo; Pavia; Italy.
CC   Sequence variation: Mutation; HGNC; 6294; KCNQ1; Simple; p.Arg594Gln (c.1781G>A); ClinVar=VCV000053018; Zygosity=Heterozygous (PubMed=30974404).
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   Male
AG   40Y
CA   Induced pluripotent stem cell
DT   Created: 24-05-19; Last updated: 29-06-23; Version: 7
//
RX   PubMed=30974404; DOI=10.1016/j.scr.2019.101431;
RA   Mura M., Lee Y.-K., Pisano F., Ginevrino M., Boni M., Calabro F.,
RA   Crotti L., Valente E.M., Schwartz P.J., Tse H.-F., Gnecchi M.;
RT   "Generation of the human induced pluripotent stem cell (hiPSC) line
RT   PSMi004-A from a carrier of the KCNQ1-R594Q mutation.";
RL   Stem Cell Res. 37:101431-101431(2019).
//