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YCMi005-AHomo sapiens (Human)Induced pluripotent stem cell

Also known as: YCMi005-hDCM005-A

AI Summary

No AI-generated summary available for this cell line.

Basic Information

Database IDCVCL_A0JT
SpeciesHomo sapiens (Human)
Tissue SourcePeripheral blood[UBERON:UBERON_0000178]

Disease Information

DiseaseRare familial disorder with hypertrophic cardiomyopathy

DepMap Information

Known Sequence Variations

TypeGene/ProteinDescriptionZygosityNoteSource
MutationSimpleTPM1p.Glu192Lys (c.574G>A)Heterozygous-PubMed=35176663

Publications

Derivation of YCMi005-A, a human-induced pluripotent stem cell line, from a patient with dilated cardiomyopathy carrying missense variant in TPM1 (p.Glu192Lys).

Lee S.-H.

Stem Cell Res. 60:102707-102707(2022).

DOIPubMed