ID   UKKi016-A
AC   CVCL_VF33
SY   NP0078-10
DR   BioSamples; SAMEA104615854
DR   EBiSC; UKKi016-A
DR   ECACC; 66540886
DR   hPSCreg; UKKi016-A
DR   Wikidata; Q54990430
CC   From: Institute for Neurophysiology, Medical Faculty, University of Cologne; Cologne; Germany.
CC   Sequence variation: Mutation; HGNC; HGNC:6294; KCNQ1; Simple; p.Arg366Trp (c.1096C>T); ClinVar=VCV000052955; Zygosity=Heterozygous (EBiSC=UKKi016-A).
CC   Discontinued: ECACC; 66540886; true.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C85049; Long QT syndrome 1
DI   ORDO; Orphanet_101016; Romano-Ward syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_VF34 ! UKKi016-B
OI   CVCL_VF35 ! UKKi016-C
SX   Male
AG   30-34Y
CA   Induced pluripotent stem cell
DT   Created: 14-05-18; Last updated: 19-12-24; Version: 11
//