ID   NUIGi003-A
SY   LQT002C1
DR   BioSamples; SAMEA5945665
DR   hPSCreg; NUIGi003-A
DR   Wikidata; Q98128125
RX   PubMed=33002718;
CC   From: National University of Ireland Galway; Galway; Ireland.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 6251; KCNH2; Simple; p.Val822Met (c.2464G>A); ClinVar=VCV000014424; Zygosity=Heterozygous (PubMed=33002718).
CC   Derived from sampling site: Skin; dermis.
DI   NCIt; C137957; Long QT syndrome 2
DI   ORDO; Orphanet_101016; Romano-Ward syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens
OI   CVCL_YT11 ! NUIGi003-B
SX   Female
AG   29Y
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 20-05-21; Version: 5
RX   PubMed=33002718; DOI=10.1016/j.scr.2020.101997;
RA   Ge N., Liu M., Krawczyk J., McInerney V., Ward D., Shen S.-B.,
RA   O'Brien T., Prendiville T.;
RT   "Generation and characterization of an induced pluripotent stem cell
RT   (iPSC) line (NUIGi003-A) from a long QT syndrome type 2 (LQT2) patient
RT   harbouring the KCNH2 c.2464G>A pathogenic variant.";
RL   Stem Cell Res. 49:101997-101997(2020).