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ZJUi012-AHomo sapiens (Human)Induced pluripotent stem cell

Also known as: ZJULLi004-A, ZYL-iPSC-C2, ZYLMYBPC3iPS

AI Summary

No AI-generated summary available for this cell line.

Basic Information

Database IDCVCL_C0IM
SpeciesHomo sapiens (Human)
Tissue SourceSkin[UBERON:UBERON_0002097]

Disease Information

DiseaseRare familial disorder with hypertrophic cardiomyopathy

DepMap Information

Known Sequence Variations

TypeGene/ProteinDescriptionZygosityNoteSource
MutationSimpleMYBPC3p.Ala1255Asp (c.3764C>A)Heterozygous-PubMed=36041398

Publications

Establishment of an induced pluripotent stem cell line (ZJULLi004-A) from a hypertrophic cardiomyopathy patient carrying MYBPC3/c.3764C>A mutation.

Liang P., Jiang C.-Y.

Stem Cell Res. 64:102898-102898(2022).

DOIPubMed