ID   PSMi005-A
AC   CVCL_WJ33
SY   HDF29-LQT1-iPS
DR   hPSCreg; PSMi005-A
DR   Wikidata; Q98128685
RX   PubMed=31009818;
CC   From: Institution Fondazione IRCCS Policlinico San Matteo; Pavia; Italy.
CC   Sequence variation: Mutation; HGNC; HGNC:6294; KCNQ1; Simple; p.Arg190Trp (c.568C>T) (p.Arg63Trp, c.187C>T); ClinVar=VCV000053070; Zygosity=Heterozygous (PubMed=31009818).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C85049; Long QT syndrome 1
DI   ORDO; Orphanet_101016; Romano-Ward syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   37Y
CA   Induced pluripotent stem cell
DT   Created: 24-05-19; Last updated: 19-12-24; Version: 10
//
RX   PubMed=31009818; DOI=10.1016/j.scr.2019.101437;
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   PSMi005-A from a patient carrying the KCNQ1-R190W mutation.";
RL   Stem Cell Res. 37:101437-101437(2019).
//