ID   UKKi008-A
AC   CVCL_9S60
SY   NP0016-3; V240M-LQTS-3
DR   BioSamples; SAMEA4583697
DR   EBiSC; UKKi008-A
DR   ECACC; 66540015
DR   hPSCreg; UKKi008-A
DR   SKIP; SKIP002460
DR   Wikidata; Q54990425
RX   PubMed=24349418;
CC   From: Institute for Neurophysiology, Medical Faculty, University of Cologne; Cologne; Germany.
CC   Population: Caucasian; German.
CC   Sequence variation: Mutation; HGNC; HGNC:10593; SCN5A; Simple; p.Val240Met (c.718G>A); ClinVar=VCV000068039; Zygosity=Heterozygous (PubMed=24349418).
CC   Discontinued: ECACC; 66540015; true.
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C137959; Long QT syndrome 3
DI   ORDO; Orphanet_101016; Romano-Ward syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   30-34Y
CA   Induced pluripotent stem cell
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 16
//
RX   PubMed=24349418; DOI=10.1371/journal.pone.0083005; PMCID=PMC3859612;
RA   Fatima, Azra
RA   Shao, Kai-Feng
RA   Dittmann, Sven
RA   Xu, Guo-Xing
RA   Gupta, Manoj Kumar
RA   Linke, Matthias
RA   Zechner, Ulrich
RA   Nguemo, Filomain
RA   Milting, Hendrik
RA   Farr, Martin
RA   Hescheler, Jurgen
RA   Saric, Tomo
RT   "The disease-specific phenotype in cardiomyocytes derived from induced
RT   pluripotent stem cells of two long QT syndrome type 3 patients.";
RL   PLoS ONE 8:e83005.1-e83005.11(2013).
//