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ZJSHi001-AHomo sapiens (Human)Induced pluripotent stem cell

Also known as: ZJSHi-KCNB1

AI Summary

No AI-generated summary available for this cell line.

Basic Information

Database IDCVCL_A9Z5
SpeciesHomo sapiens (Human)
Tissue SourcePeripheral blood[UBERON:UBERON_0000178]

Disease Information

DiseaseNon-specific early-onset epileptic encephalopathy

DepMap Information

Known Sequence Variations

TypeGene/ProteinDescriptionZygosityNoteSource
MutationSimpleKCNB1p.Glu330Asp (c.990G>T)Heterozygous-PubMed=33607466

Publications

Establishment of an induced pluripotent stem cell line (ZJSHi001-A) from a patient with epileptic encephalopathy carrying KCNB1 Glu330Asp mutation.

Wang Y., Zhang B.-J., Gao L.-Y., Feng J.-H.

Stem Cell Res. 52:102224-102224(2021).

DOIPubMed