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ZJUi005-AHomo sapiens (Human)Induced pluripotent stem cell

Also known as: ZJU-iPS-PMD-PLP1-001

AI Summary

No AI-generated summary available for this cell line.

Basic Information

Database IDCVCL_ZE47
SpeciesHomo sapiens (Human)
Tissue SourcePeripheral blood[UBERON:UBERON_0000178]

Disease Information

DiseasePelizaeus-Merzbacher disease

DepMap Information

Known Sequence Variations

TypeGene/ProteinDescriptionZygosityNoteSource
MutationSimplePLP1p.Leu146Pro (c.437T>C)Hemizygous-PubMed=32402715

Publications

Generation of the human induced pluripotent stem cell line (ZJUi005-A) from a patient with Pelizaeus-Merzbacher disease (PMD) carrying a novel hemizygous mutation in PLP1 gene.

Zhang J., Dong M.-Y.

Stem Cell Res. 45:101791-101791(2020).

DOIPubMed