ID   NUIGi005-C
AC   CVCL_WS89
SY   LQTS004Cx; LQT004Cx
DR   BioSamples; SAMEA5912492
DR   hPSCreg; NUIGi005-C
DR   Wikidata; Q98128131
RX   PubMed=31415974;
CC   From: National University of Ireland Galway; Galway; Ireland.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 6294; KCNQ1; Simple; p.Ser566Tyr (c.1697C>A) (p.Ser439Tyr, c.1316C>A); ClinVar=VCV000053005; Zygosity=Heterozygous (PubMed=31415974).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
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)
OI   CVCL_WS87 ! NUIGi005-A
OI   CVCL_WS88 ! NUIGi005-B
SX   Female
AG   38Y
CA   Induced pluripotent stem cell
DT   Created: 05-07-19; Last updated: 29-06-23; Version: 8
//
RX   PubMed=31415974; DOI=10.1016/j.scr.2019.101502;
RA   Ge N., Liu M., Krawczyk J., McInerney V., Galvin J., Shen S.-B.,
RA   O'Brien T., Prendiville T.;
RT   "Generation of eight human induced pluripotent stem cell (iPSC) lines
RT   from familial Long QT syndrome type 1 (LQT1) patients carrying KCNQ1
RT   c.1697C>A mutation (NUIGi005-A, NUIGi005-B, NUIGi005-C, NUIGi006-A,
RT   NUIGi006-B, NUIGi006-C, NUIGi007-A, and NUIGi007-B).";
RL   Stem Cell Res. 39:101502-101502(2019).
//