ID   NUIGi010-B
SY   LQTS009C3
DR   BioSamples; SAMEA5912504
DR   hPSCreg; NUIGi010-B
RX   PubMed=31765965;
CC   From: National University of Ireland Galway; Galway; Ireland.
CC   Sequence variation: Heterozygous for KCNQ1 p.Arg401Profs (c.1201dupC) (PubMed=31765965).
CC   Derived from sampling site: Skin; dermis.
DI   NCIt; C85049; Long QT syndrome 1
DI   ORDO; Orphanet_101016; Romano-Ward syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens
OI   CVCL_WT02 ! NUIGi010-A
OI   CVCL_WT04 ! NUIGi010-C
SX   Male
AG   14Y
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 12-03-20; Version: 3
RX   PubMed=31765965; DOI=10.1016/j.scr.2019.101650;
RA   Ge N., Liu M., Ding Y., Krawczyk J., McInerney V., Galvin J., Shen S.,
RA   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).