| Literature DB >> 27345784 |
Laura Hildebrand1, Bella Rossbach1, Peter Kühnen2, Manfred Gossen3, Andreas Kurtz4, Petra Reinke1, Petra Seemann1, Harald Stachelscheid5.
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.Entities:
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Year: 2015 PMID: 27345784 DOI: 10.1016/j.scr.2015.11.017
Source DB: PubMed Journal: Stem Cell Res ISSN: 1873-5061 Impact factor: 2.020