ID   NUIGi004-A
SY   LQT003C1
DR   BioSamples; SAMEA9334969
DR   hPSCreg; NUIGi004-A
DR   Wikidata; Q98128127
RX   PubMed=34628246;
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=34628246).
CC   Derived from sampling site: Skin; dermis. Cell type=Fibroblast.
DI   NCIt; C137957; Long QT syndrome 2
DI   ORDO; Orphanet_101016; Romano-Ward syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Female
AG   58Y
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 16-12-21; Version: 5
RX   PubMed=34628246; DOI=10.1016/j.scr.2021.102555;
RA   Liu M., Ge N., Zhang J.-H., Yang M.-M., Yang F., Krawczyk J., Ward D.,
RA   McInerney V., O'Brien T., Shen S.-B., Prendiville T.;
RT   "Derivation and characterization of two human induced pluripotent stem
RT   cell lines (NUIGi004-A) and (NUIGi012-A) from two patients with LQT2
RT   disease.";
RL   Stem Cell Res. 56:102555-102555(2021).