ID   NUIGi008-B
SY   LQTS007C2
DR   BioSamples; SAMEA5912498
DR   hPSCreg; NUIGi008-B
DR   Wikidata; Q98128139
RX   PubMed=31765965;
CC   From: National University of Ireland Galway; Galway; Ireland.
CC   Sequence variation: Mutation; HGNC; 6294; KCNQ1; Simple; p.Arg401Profs*62 (c.1201dupC) (p.Arg274Profs, c.820dupC); ClinVar=VCV000052972; Zygosity=Heterozygous (PubMed=31765965).
CC   Derived from sampling site: Skin; dermis. Cell type=Fibroblast.
DI   NCIt; C85049; Long QT syndrome 1
DI   ORDO; Orphanet_101016; Romano-Ward syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens
OI   CVCL_WS95 ! NUIGi008-A
OI   CVCL_WS97 ! NUIGi008-C
SX   Female
AG   45Y
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 16-12-21; Version: 6
RX   PubMed=31765965; DOI=10.1016/j.scr.2019.101650;
RA   Ge N., Liu M., Ding Y.-C., Krawczyk J., McInerney V., Galvin J.,
RA   Shen S.-B., Prendiville T., O'Brien T.;
RT   "Generation and characterization of twelve human induced pluripotent
RT   stem cell (iPSC) lines from four familial long QT syndrome type 1
RT   (LQT1) patients carrying KCNQ1 c.1201dupC mutation.";
RL   Stem Cell Res. 41:101650-101650(2019).