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Cellosaurus UKMi006-A (CVCL_D1GB)

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Cell line name UKMi006-A
Accession CVCL_D1GB
Resource Identification Initiative To cite this cell line use: UKMi006-A (RRID:CVCL_D1GB)
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; HGNC:6266; KCNJ5; Simple_corrected; p.Trp101Cys (c.303G>C); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=37894977).
Disease Sinus node dysfunction (NCIt: C62243)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_D0N9 (UKMi005-A)
Sex of cell Female
Age at sampling 43Y
Category Induced pluripotent stem cell
Publications

PubMed=37894977; DOI=10.3390/ijms242015290; PMCID=PMC10607318
Anne Kayser, Sven Dittmann, Tomo Saric, Giulia Mearini, Arie O. Verkerk, Eric Schulze-Bahr;
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; UKMi006-A
Encyclopedic resources Wikidata; Q127384567
Entry history
Entry creation30-Jan-2024
Last entry update19-Dec-2024
Version number3