title: Generation of integration free induced pluripotent stem cells from fibrodysplasia ossificans progressiva (FOP) patients from urine samples.
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.
authors.affiliation: Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Föhrer Strasse 15, 13353 Berlin, Germany.
authors.forename: Laura
authors.initials: L
authors.lastname: Hildebrand
authors.affiliation: Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Föhrer Strasse 15, 13353 Berlin, Germany.
authors.forename: Bella
authors.initials: B
authors.lastname: Rossbach
authors.affiliation: Institute for Experimental Pediatric Endocrinology, Charité-Universitätsmedizin Berlin, Germany.
authors.forename: Peter
authors.initials: P
authors.lastname: Kühnen
authors.affiliation: Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Föhrer Strasse 15, 13353 Berlin, Germany; Institute of Biomaterial Science, Helmholtz-Zentrum Geesthacht, Kantstraße 55, 14513 Teltow, Germany.
authors.forename: Manfred
authors.initials: M
authors.lastname: Gossen
authors.affiliation: Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Föhrer Strasse 15, 13353 Berlin, Germany; Seoul National University, College of Veterinary Medicine and Research Institute for Veterinary Science, Seoul, Republic of Korea.
authors.forename: Andreas
authors.initials: A
authors.lastname: Kurtz
authors.affiliation: Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Föhrer Strasse 15, 13353 Berlin, Germany.
authors.forename: Petra
authors.initials: P
authors.lastname: Reinke
authors.affiliation: Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Föhrer Strasse 15, 13353 Berlin, Germany.
authors.forename: Petra
authors.initials: P
authors.lastname: Seemann
authors.affiliation: Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Föhrer Strasse 15, 13353 Berlin, Germany; Berlin Institute of Health-Stem Cell Core Facility, Berlin, Germany.
authors.forename: Harald
authors.initials: H
authors.lastname: Stachelscheid
mesh_terms: D001483:Base Sequence; D015415:Biomarkers / Q000378:metabolism; D018929:Cell Culture Techniques / Q000379:methods*; D002454:Cell Differentiation; D048430:Cell Shape; D002478:Cells, Cultured; D016172:DNA Fingerprinting; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000166:cytology*; D007621:Karyotyping; D009221:Myositis Ossificans / Q000473:pathology* / Q000652:urine*; D015203:Reproducibility of Results; D029082:Sendai virus / Q000502:physiology; D017422:Sequence Analysis, DNA
chemical_list: D015415:Biomarkers