ID   PSMi006-A
AC   CVCL_WJ37
SY   HDF39-ARLQT-iPS
DR   hPSCreg; PSMi006-A
DR   Wikidata; Q98128686
RX   PubMed=31785541;
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=31785541).
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   40Y
CA   Induced pluripotent stem cell
DT   Created: 24-05-19; Last updated: 29-06-23; Version: 8
//
RX   PubMed=31785541; DOI=10.1016/j.scr.2019.101658;
RA   Mura M., Bastaroli F., Corli M., Ginevrino M., Calabro F., Boni M.,
RA   Crotti L., Valente E.M., Schwartz P.J., Gnecchi M.;
RT   "Generation of the human induced pluripotent stem cell (hiPSC) line
RT   PSMi006-A from a patient affected by an autosomal recessive form of
RT   long QT syndrome type 1.";
RL   Stem Cell Res. 42:101658-101658(2020).
//