ID   UKKi019-B
AC   CVCL_LD29
SY   NP0081-11
DR   BioSamples; SAMEA17626168
DR   EBiSC; UKKi019-B
DR   ECACC; 66540481
DR   EGA; EGAS00001002755
DR   hPSCreg; UKKi019-B
DR   Wikidata; Q54990470
CC   From: Institute for Neurophysiology, Medical Faculty, University of Cologne; Cologne; Germany.
CC   Sequence variation: Mutation; HGNC; 6251; KCNH2; Simple; p.Tyr427Cys (c.1280A>G); ClinVar=VCV000067179; Zygosity=Heterozygous (EBiSC=UKKi019-B).
CC   Omics: Genome sequenced.
CC   Discontinued: ECACC; 66540481; 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_LD28 ! UKKi019-A
OI   CVCL_LD30 ! UKKi019-C
SX   Female
AG   20-24Y
CA   Induced pluripotent stem cell
DT   Created: 22-08-17; Last updated: 30-01-24; Version: 13
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