YCMi006-AHomo sapiens (Human)Induced pluripotent stem cell

AI Summary

No AI-generated summary available for this cell line.

Basic Information

Database IDCVCL_B6RI
SpeciesHomo sapiens (Human)
Tissue SourcePeripheral blood[UBERON:UBERON_0000178]

Disease Information

DiseaseHypertrophic cardiomyopathy

DepMap Information

Known Sequence Variations

TypeGene/ProteinDescriptionZygosityNoteSource
MutationSimpleACTA1p.Ile343Met (c.1029C>G)Heterozygous-PubMed=35917599

Publications

An induced pluripotent stem cell line (YCMi006-A) generated from a patient with hypertrophic cardiomyopathy who carries the ACTA1 mutation p.Ile343Met.

Kim S., Kim H.-P., Kim S.-J., Park S.W., Kang S.-M., Lee S.-H.

Stem Cell Res. 63:102874-102874(2022).