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; 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: 30-01-24; Version: 15
//
RX   PubMed=24349418; DOI=10.1371/journal.pone.0083005;
RA   Fatima A., Shao K.-F., Dittmann S., Xu G.-X., Gupta M.K., Linke M.,
RA   Zechner U., Nguemo F., Milting H., Farr M., Hescheler J., Saric T.;
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-E83005(2013).
//