ID   UKMi005-A
AC   CVCL_D0N9
SY   KCNJ5 K8
DR   BioSamples; SAMEA114385442
DR   hPSCreg; UKMi005-A
DR   Wikidata; Q123033717
RX   PubMed=37890333;
RX   PubMed=37894977;
CC   From: Muenster University Children's Hospital; Muenster; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:6266; KCNJ5; Simple; p.Trp101Cys (c.303G>C); Zygosity=Heterozygous (PubMed=37890333).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C62243; Sinus node dysfunction
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   43Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 19-12-24; Version: 3
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RX   PubMed=37890333; DOI=10.1016/j.scr.2023.103223;
RA   Kayser A., Dittmann S., van Impel A., Saric T., Schulze-Bahr E.;
RT   "Patient-derived stem cell line UKMi005-A (hiPSC) harboring a
RT   non-synonymous heterozygous KCNJ5 gene variant.";
RL   Stem Cell Res. 73:103223-103223(2023).
//
RX   PubMed=37894977; DOI=10.3390/ijms242015290; PMCID=PMC10607318;
RA   Kayser A., Dittmann S., Saric T., Mearini G., Verkerk A.O.,
RA   Schulze-Bahr E.;
RT   "The W101C KCNJ5 mutation induces slower pacing by constitutively
RT   active GIRK channels in hiPSC-derived cardiomyocytes.";
RL   Int. J. Mol. Sci. 24:15290.1-15290.17(2023).
//