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vFOP1-1Homo sapiens (Human)Induced pluripotent stem cell

Basic Information

Database IDCVCL_W549
SpeciesHomo sapiens (Human)
Tissue SourceArm, skin[UBERON:UBERON_0002427]

Disease Information

DiseaseFibrodysplasia ossificans progressiva

DepMap Information

Known Sequence Variations

TypeGene/ProteinDescriptionZygosityNoteSource
MutationSimpleACVR1p.Arg206His (c.617G>A)Heterozygous-from parent cell line GM00513

Publications

Induced pluripotent stem cells from patients with human fibrodysplasia ossificans progressiva show increased mineralization and cartilage formation.

Otsuka T., Yamanaka S., Conklin B.R., Toguchida J., Hsiao E.C.

Orphanet J. Rare Dis. 8:190.1-190.14(2013).

DOIPubMedPMC