ID   UKKi029-B
AC   CVCL_RM69
SY   NP0077-16E
DR   BioSamples; SAMEA104494407
DR   EBiSC; UKKi029-B
DR   ECACC; 66540873
DR   hPSCreg; UKKi029-B
DR   Wikidata; Q54990506
CC   From: Institute for Neurophysiology, Medical Faculty, University of Cologne; Cologne; Germany.
CC   Sequence variation: Mutation; HGNC; 6294; KCNQ1; Simple; p.Asp564His (c.1690G>T); Zygosity=Heterozygous (EBiSC).
CC   Derived from sampling site: Peripheral blood.
DI   NCIt; C85049; Long QT syndrome 1
DI   ORDO; Orphanet_101016; Romano-Ward syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens
OI   CVCL_RM68 ! UKKi029-A
OI   CVCL_RM70 ! UKKi029-C
SX   Female
AG   20-24Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 20-05-21; Version: 8
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