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ZJUi010-AHomo sapiens (Human)Induced pluripotent stem cell

Also known as: ZJULLi002-A, 161103SPYLQTFSDC12

AI Summary

No AI-generated summary available for this cell line.

Basic Information

Database IDCVCL_C0IJ
SpeciesHomo sapiens (Human)
Tissue SourceSkin[UBERON:UBERON_0002097]

Disease Information

DiseaseRomano-Ward syndrome

DepMap Information

Known Sequence Variations

TypeGene/ProteinDescriptionZygosityNoteSource
MutationSimpleKCNH2p.Tyr652Ter (c.1956C>A)Heterozygous-PubMed=35569348

Publications

Generation of an induced pluripotent stem cell line from a long QT syndrome patient carrying KCNH2/1956C > A mutation.

Su J., Gong T.-Y., Jiang C.-Y., Liang P.

Stem Cell Res. 62:102813-102813(2022).

DOIPubMed