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ZJYYPHi001-AHomo sapiens (Human)Induced pluripotent stem cell

AI Summary

No AI-generated summary available for this cell line.

Basic Information

Database IDCVCL_B5GQ
SpeciesHomo sapiens (Human)
Tissue SourcePeripheral blood[UBERON:UBERON_0000178]

Disease Information

DiseaseRomano-Ward syndrome

DepMap Information

Known Sequence Variations

TypeGene/ProteinDescriptionZygosityNoteSource
MutationSimpleSCN5Ap.Arg513Cys (c.1537C>T)Heterozygous-PubMed=34678660

Publications

Reprogramming of a human induced pluripotent stem cell line from a long QT syndrome patient harboring a heterozygous mutation of c.1537C>T in SCN5A gene.

Chen J.-N., Song Y.-S., Gu J.-Q., Chen L.

Stem Cell Res. 57:102576-102576(2021).

DOIPubMed