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ZJUCHi001-AHomo sapiens (Human)Induced pluripotent stem cell

AI Summary

No AI-generated summary available for this cell line.

Basic Information

Database IDCVCL_VT14
SpeciesHomo sapiens (Human)
Tissue SourceUrine[UBERON:UBERON_0001088]

Disease Information

DiseaseCharcot-Marie-Tooth disease type 1B

DepMap Information

Known Sequence Variations

TypeGene/ProteinDescriptionZygosityNoteSource
MutationSimpleMPZp.Arg98Cys (c.292C>T)Heterozygous-PubMed=30785048

Publications

Generation of a human Charcot-Marie-Tooth disease type 1B (CMT1B) iPSC line, ZJUCHi001-A, with a mutation of c.292C>T in MPZ.

Li Y., Li H.-F., Chen W.

Stem Cell Res. 35:101407-101407(2019).

DOIPubMed