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ZJUi004-AHomo sapiens (Human)Induced pluripotent stem cell

Also known as: FXY-iPSC-C9

AI Summary

No AI-generated summary available for this cell line.

Basic Information

Database IDCVCL_ZL89
SpeciesHomo sapiens (Human)
Tissue SourceSkin, dermis[UBERON:UBERON_0002067]

Disease Information

DiseaseFamilial isolated arrhythmogenic ventricular dysplasia, right dominant form

DepMap Information

Known Sequence Variations

TypeGene/ProteinDescriptionZygosityNoteSource
MutationSimplePKP2c.2357+1G>A (c.2489+1G>A)HeterozygousSplice donor mutationPubMed=32916635

Publications

Generation of an induced pluripotent stem cell line from the dermal fibroblasts of a patient with arrhythmogenic right ventricular cardiomyopathy carrying a PKP2/c.2489 + 1G > A mutation.

Liang P.

Stem Cell Res. 48:101965-101965(2020).

DOIPubMed