ID   UKKi019-A
AC   CVCL_LD28
SY   NP0081-1A
DR   BioSamples; SAMEA17624668
DR   EBiSC; UKKi019-A
DR   ECACC; 66540480
DR   EGA; EGAS00001002755
DR   hPSCreg; UKKi019-A
DR   Wikidata; Q54990469
CC   From: Institute for Neurophysiology, Medical Faculty, University of Cologne; Cologne; Germany.
CC   Sequence variation: Mutation; HGNC; HGNC:6251; KCNH2; Simple; p.Tyr427Cys (c.1280A>G); ClinVar=VCV000067179; Zygosity=Heterozygous (EBiSC=UKKi019-A).
CC   Omics: Genomics; Whole genome sequencing.
CC   Discontinued: ECACC; 66540480; 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_LD29 ! UKKi019-B
OI   CVCL_LD30 ! UKKi019-C
SX   Female
AG   20-24Y
CA   Induced pluripotent stem cell
DT   Created: 22-08-17; Last updated: 10-04-25; Version: 15
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