Osteopetrotic induced pluripotent stem cells derived from patients with different disease-associated mutations by non-integrating reprogramming methods

OKUR F. V., Cevher I., ÖZDEMİR SAKA C., Kocaefe C., ÇETİNKAYA F. D.

STEM CELL RESEARCH & THERAPY, vol.10, 2019 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 10
  • Publication Date: 2019
  • Doi Number: 10.1186/s13287-019-1316-8
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Keywords: Osteopetrosis, Sendai virus, Episomal vector, Mesenchymal stromal cells, Induced pluripotent stem cells, Reprogramming, BONE-MARROW, GENERATION, GENETICS, VECTOR, BLOOD
  • Hacettepe University Affiliated: Yes


Background: Autosomal recessive osteopetrosis is a genetically and phenotypically heterogeneous disease, caused by defects in osteoclast formation and function. The only available treatment is allogeneic stem cell transplantation that has still high morbidity and mortality. The goal of the present study was to generate iPSCs from bone marrow-derived MSCs of osteopetrosis patients with three most common mutations by using two different integration-free gene transfer methods and compare their efficiencies. The secondary objective was to select the most appropriate integration-free production method for our institutional iPSC bank using this rare disease as a prototype.