Hildebrand Laura, Rossbach Bella, Kühnen Peter, Gossen Manfred, Kurtz Andreas, Reinke Petra, Seemann Petra, Stachelscheid Harald
Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Föhrer Strasse 15, 13353 Berlin, Germany.
Institute for Experimental Pediatric Endocrinology, Charité-Universitätsmedizin Berlin, Germany.
Stem Cell Res. 2016 Jan;16(1):54-8. doi: 10.1016/j.scr.2015.11.017. Epub 2015 Dec 1.
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.
进行性骨化性纤维发育不良（FOP）是一种极其罕见的常染色体显性遗传疾病。患者会经历渐进性的骨形成，从而替代肌腱、韧带、肌肉和软组织。FOP的病因是骨形态发生蛋白（BMP）受体1型激活素A受体（ACVR1）的功能获得性突变（卡普兰等人，2008年）。最常见的突变是R206H，它导致密码子206处的精氨酸被组氨酸取代（肖尔等人，2006年）。在此，我们描述了来自两名携带R206H突变的FOP患者的两个诱导多能干细胞（hiPSC）系的衍生和特性。细胞从尿液中分离出来，并在特定条件下使用无整合仙台病毒载体进行重编程。
