ID   UKKi009-B
AC   CVCL_9S62
SY   NP0011-19
DR   BioSamples; SAMEA2825897
DR   EBiSC; UKKi009-B
DR   ECACC; 66540032
DR   hPSCreg; UKKi009-B
DR   SKIP; SKIP002462
DR   Wikidata; Q54990427
RX   PubMed=27345990;
CC   From: Institute for Neurophysiology, Medical Faculty, University of Cologne; Cologne; Germany.
CC   Population: Caucasian; German.
CC   Sequence variation: Mutation; HGNC; 6251; KCNH2; Simple; p.Leu1012Profs*55 (c.3035_3045delTCCCTCGATGC); Zygosity=Heterozygous (PubMed=27345990).
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_9S61 ! UKKi009-A
SX   Female
AG   35-39Y
CA   Induced pluripotent stem cell
DT   Created: 23-02-16; Last updated: 20-05-21; Version: 11
//
RX   PubMed=27345990; DOI=10.1016/j.scr.2015.12.039;
RA   Fatima A., Ivanyuk D., Herms S., Heilmann-Heimbach S., O'Shea O.,
RA   Chapman C., Izsvak S., Farr M., Hescheler J., Saric T.;
RT   "Generation of human induced pluripotent stem cell line from a patient
RT   with a long QT syndrome type 2.";
RL   Stem Cell Res. 16:304-307(2016).
//