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YCMi003-AHomo sapiens (Human)Induced pluripotent stem cell

Also known as: YCMi003-hDCM003-A

AI Summary

No AI-generated summary available for this cell line.

Basic Information

Database IDCVCL_A8NX
SpeciesHomo sapiens (Human)
Tissue SourcePeripheral blood[UBERON:UBERON_0000178]

Disease Information

DiseaseFamilial dilated cardiomyopathy with conduction defect due to LMNA mutation

DepMap Information

Known Sequence Variations

TypeGene/ProteinDescriptionZygosityNoteSource
MutationSimpleLMNAp.Asp364His (c.1090G>C)Heterozygous-PubMed=34438160

Publications

Establishment of a novel human iPSC line (YCMi003-A) from a patient with dilated cardiomyopathy carrying genetic variant LMNA p.Asp364His.

Won D., Yoon H.-G., Park S.W., Kang S.-M., Lee S.-T., Lee S.-H.

Stem Cell Res. 56:102508-102508(2021).

DOIPubMed