ID   UKMi006-A
AC   CVCL_D1GB
DR   hPSCreg; UKMi006-A
RX   PubMed=37894977;
CC   From: Muenster University Children's Hospital; Muenster; Germany.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 6266; KCNJ5; Simple_corrected; p.Trp101Cys (c.303G>C); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=37894977).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C62243; Sinus node dysfunction
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_D0N9 ! UKMi005-A
SX   Female
AG   43Y
CA   Induced pluripotent stem cell
DT   Created: 30-01-24; Last updated: 30-01-24; Version: 1
//
RX   PubMed=37894977; DOI=10.3390/ijms242015290;
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).
//