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

ABSTRACT:

Background

Abnormal activation of endochondral bone formation in soft tissues causes significant medical diseases associated with disability and pain. Hyperactive mutations in the bone morphogenetic protein (BMP) type 1 receptor ACVR1 lead to fibrodysplasia ossificans progressiva (FOP), a rare genetic disorder characterized by progressive ossification in soft tissues. However, the specific cellular mechanisms are unclear. In addition, the difficulty obtaining tissue samples from FOP patients and the limitations in mouse models of FOP hamper our ability to dissect the pathogenesis of FOP.

Methods

To address these challenges and develop a "disease model in a dish", we created human induced pluripotent stem cells (iPS cells) derived from normal and FOP dermal fibroblasts by two

SUBMITTER: Matsumoto Y 

PROVIDER: S-EPMC3892046 | biostudies-literature | 2013 Dec

REPOSITORIES: biostudies-literature