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YUCMi024-AHomo sapiens (Human)Induced pluripotent stem cell

Also known as: hiPSC-KCNQ1_G245G_2

AI Summary

No AI-generated summary available for this cell line.

Basic Information

Database IDCVCL_E5EC
SpeciesHomo sapiens (Human)
Tissue SourcePeripheral blood[UBERON:UBERON_0000178]

Disease Information

DiseaseRomano-Ward syndrome

DepMap Information

Known Sequence Variations

TypeGene/ProteinDescriptionZygosityNoteSource
MutationSimpleKCNQ1p.Gly245Glu (c.734G>A)Heterozygous-PubMed=39388802

Publications

Establishment of two human induced pluripotent stem cell lines from familial long QT syndrome type 1 patients carrying KCNQ1 mutation.

Mun D., Yoo G., Park M., Kang J.-Y., Yun N., Joung B.

Stem Cell Res. 81:103571-103571(2024).

DOIPubMed