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Cellosaurus UKMi005-A (CVCL_D0N9)

[Text version]
Cell line name UKMi005-A
Synonyms KCNJ5 K8
Accession CVCL_D0N9
Resource Identification Initiative To cite this cell line use: UKMi005-A (RRID:CVCL_D0N9)
Comments From: Muenster University Children's Hospital; Muenster; Germany.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 6266; KCNJ5; Simple; p.Trp101Cys (c.303G>C); Zygosity=Heterozygous (PubMed=37890333).
Disease Sinus node dysfunction (NCIt: C62243)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_D1GB (UKMi006-A)
Sex of cell Female
Age at sampling 43Y
Category Induced pluripotent stem cell
Publications

PubMed=37890333; DOI=10.1016/j.scr.2023.103223
Kayser A., Dittmann S., van Impel A., Saric T., Schulze-Bahr E.
Patient-derived stem cell line UKMi005-A (hiPSC) harboring a non-synonymous heterozygous KCNJ5 gene variant.
Stem Cell Res. 73:103223-103223(2023)

PubMed=37894977; DOI=10.3390/ijms242015290; PMCID=PMC10607318
Kayser A., Dittmann S., Saric T., Mearini G., Verkerk A.O., Schulze-Bahr E.
The W101C KCNJ5 mutation induces slower pacing by constitutively active GIRK channels in hiPSC-derived cardiomyocytes.
Int. J. Mol. Sci. 24:15290.1-15290.17(2023)

Cross-references
Cell line databases/resources hPSCreg; UKMi005-A
Biological sample resources BioSamples; SAMEA114385442
Encyclopedic resources Wikidata; Q123033717
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2