Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2094308 | Stem Cell Research | 2016 | 5 Pages |
Abstract
Fibrodysplasia ossificans progressiva (FOP) is an extremely rare, autosomal dominant transmitted genetic disease. Patients experience progressive bone formation replacing tendons, ligaments, muscle and soft tissue. Cause of FOP are gain-of-function mutations in the Bone Morphogenetic Protein (BMP) receptor Activin A receptor type 1 (ACVR1) ( Kaplan et al., 2008). The most common mutation is R206H, which leads to the substitution of codon 206 from arginine to histidine (Shore et al., 2006).Here, we describe the derivation and characterization of two hiPSC lines from two FOP patients, both carrying the mutation R206H. Cells were isolated from urine and reprogrammed using integration free Sendai virus vectors under defined conditions.
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Authors
Laura Hildebrand, Bella Rossbach, Peter Kühnen, Manfred Gossen, Andreas Kurtz, Petra Reinke, Petra Seemann, Harald Stachelscheid,