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Article

Modeling the ACVR1R206H mutation in human skeletal muscle stem cells.

eLife - 10 Nov 2021

Barruet Emilie, Garcia Steven M, Wu Jake, Morales Blanca M, Tamaki Stanley, Moody Tania, Pomerantz Jason H, Hsiao Edward C

Abstract excerpt

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 ACVR1R206H (Activin receptor type-1 receptor) mutation, to elucidate how ACVR1 affects skeletal muscle repair. Rare and unique primary FOP human muscle stem cells (Hu-MuSCs) isolated...

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Share to Activin Receptors, Type I
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscle Fibers, Skeletal

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Share to Myositis Ossificans

Share to Ossification, Heterotopic

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Source

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Identifiers

PMID: 34755602
DOI: 10.7554/eLife.66107
PMCID: PMC8691832

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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