Modeling the ACVR1 R206H mutation in human skeletal muscle stem cells

Abnormalities in skeletal muscle repair can lead to poor function and complications such as scarring or heterotopic ossification (HO). Here, we use fibrodysplasia ossificans progressiva (FOP), a disease of progressive HO caused by (Activin receptor type-1 receptor) mutation, to elucidate how ACVR1 a...

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Bibliographic Details
Published in:	eLife Vol. 10
Main Authors:	Barruet, Emilie, Garcia, Steven M, Wu, Jake, Morales, Blanca M, Tamaki, Stanley, Moody, Tania, Pomerantz, Jason H, Hsiao, Edward C
Format:	Journal Article
Language:	English
Published:	England 10-11-2021
Subjects:	Activin Receptors, Type I - genetics Activin Receptors, Type I - metabolism Adult Animals Female Humans Induced Pluripotent Stem Cells - physiology Mice Middle Aged Muscle Fibers, Skeletal - physiology Mutation Myositis Ossificans - genetics Myositis Ossificans - metabolism Myositis Ossificans - physiopathology Ossification, Heterotopic - genetics Ossification, Heterotopic - metabolism Ossification, Heterotopic - physiopathology Signal Transduction - physiology ACVR1 stem cells fibrodysplasia ossificans progressivav FOP cell biology human satellite cells hu-SCs regenerative medicine heterotopic ossification human induced pluripotent stem cells iPSCs human human muscle stem cells hu-MuSCs
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