Generation of integration free induced pluripotent stem cells from fibrodysplasia ossificans progressiva (FOP) patients from urine samples
Summary
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. Copyright © 2015 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Hildebrand L, Rossbach B, Kühnen P, Gossen M, Kurtz A, Reinke P, Seemann P, Stachelscheid H |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2016 Jan;16(1):54-8 |
| PubMed | 27345784 |
| DOI | 10.1016/j.scr.2015.11.017 |