ID   UKKi023-C
AC   CVCL_LD39
SY   NP0126-6
DR   BioSamples; SAMEA17632918
DR   EBiSC; UKKi023-C
DR   ECACC; 66540487
DR   hPSCreg; UKKi023-C
DR   Wikidata; Q54990486
CC   From: Institute for Neurophysiology, Medical Faculty, University of Cologne; Cologne; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 6251; KCNH2; Simple; p.Arg531Trp (c.1591C>T); ClinVar=VCV000067218; Zygosity=Heterozygous (EBiSC=UKKi023-C).
CC   Discontinued: ECACC; 66540487; true.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C137957; Long QT syndrome 2
DI   ORDO; Orphanet_101016; Romano-Ward syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_LD37 ! UKKi023-A
OI   CVCL_LD38 ! UKKi023-B
SX   Male
AG   50-54Y
CA   Induced pluripotent stem cell
DT   Created: 22-08-17; Last updated: 30-01-24; Version: 12
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