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ZJUi013-AHomo sapiens (Human)Induced pluripotent stem cell

AI Summary

No AI-generated summary available for this cell line.

Basic Information

Database IDCVCL_C9HU
SpeciesHomo sapiens (Human)
Tissue SourceSkin[UBERON:UBERON_0002097]

Disease Information

DiseaseBenign adult familial myoclonic epilepsy

DepMap Information

Known Sequence Variations

TypeGene/ProteinDescriptionZygosityNoteSource
MutationUnexplicitSAMD125-BP INS, TTTCA(n) repeat expansion, IVS4Heterozygous-PubMed=37890330

Publications

Generation of an induced pluripotent stem cell line (ZJUi013-A) from a familial cortical myoclonic tremor with epilepsy type 1 patient carrying (TTTCA)(n) insertion in the SAMD12 gene.

Zhang F., Chen S.-Q., Chen Y.-L., Chen X.-H., Cen Z.-D., Luo W.

Stem Cell Res. 73:103236-103236(2023).

DOIPubMed