ID   UKKi029-C
AC   CVCL_RM70
SY   NP0077-18C
DR   BioSamples; SAMEA104494408
DR   EBiSC; UKKi029-C
DR   ECACC; 66540874
DR   hPSCreg; UKKi029-C
DR   Wikidata; Q54990507
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=UKKi029-C).
CC   Discontinued: ECACC; 66540874; 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_RM68 ! UKKi029-A
OI   CVCL_RM69 ! UKKi029-B
SX   Female
AG   20-24Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 30-01-24; Version: 11
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