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ZJSHDPi001-AHomo sapiens (Human)Induced pluripotent stem cell

Also known as: ZJSH-FGF12

AI Summary

No AI-generated summary available for this cell line.

Basic Information

Database IDCVCL_C8D1
SpeciesHomo sapiens (Human)
Tissue SourcePeripheral blood[UBERON:UBERON_0000178]

Disease Information

DiseaseNon-specific early-onset epileptic encephalopathy

DepMap Information

Known Sequence Variations

TypeGene/ProteinDescriptionZygosityNoteSource
MutationSimpleFGF12p.Gly112Ser (c.334G>A) (p.Gly50Ser, c.148G>A)Heterozygous-PubMed=37331110

Publications

Generation of a human iPSC line (ZJSHDPi001-A) from peripheral blood mononuclear cells of a patient with developmental epileptic encephalopathy-47 carrying FGF12 gene mutation (c.334G > A).

Feng J.-H.

Stem Cell Res. 71:103127-103127(2023).

DOIPubMed