ID   UKKi009-A
AC   CVCL_9S61
SY   NP0011-8
DR   BioSamples; SAMEA4583816
DR   EBiSC; UKKi009-A
DR   ECACC; 66540002
DR   ECACC; 66540031
DR   hPSCreg; UKKi009-A
DR   SKIP; SKIP002461
DR   Wikidata; Q54990426
RX   PubMed=27345990;
CC   From: Institute for Neurophysiology, Medical Faculty, University of Cologne; Cologne; Germany.
CC   Population: Caucasian; German.
CC   Sequence variation: Mutation; HGNC; HGNC:6251; KCNH2; Simple; p.Leu1012Profs*55 (c.3035_3045delTCCCTCGATGC); Zygosity=Heterozygous (PubMed=27345990).
CC   Discontinued: ECACC; 66540002; true.
CC   Discontinued: ECACC; 66540031; true.
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C137957; Long QT syndrome 2
DI   ORDO; Orphanet_101016; Romano-Ward syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_9S62 ! UKKi009-B
SX   Female
AG   35-39Y
CA   Induced pluripotent stem cell
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 17
//
RX   PubMed=27345990; DOI=10.1016/j.scr.2015.12.039;
RA   Fatima, Azra
RA   Ivanyuk, Dina
RA   Herms, Stefan
RA   Heilmann-Heimbach, Stefanie
RA   O'Shea, Orla
RA   Chapman, Charlotte
RA   Izsvak, Zsuszanna
RA   Farr, Martin
RA   Hescheler, Jurgen
RA   Saric, Tomo
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).
//