Generation of a human induced pluripotent stem cell line (BIHi002-A) from a patient with CLCN7-related infantile malignant autosomal recessive osteopetrosis

Research output: Contribution to journalResearch articleContributedpeer-review

Contributors

  • Anna Floriane Hennig - , Charité – Universitätsmedizin Berlin (Author)
  • Uta Rössler - , Charité – Universitätsmedizin Berlin (Author)
  • Franziska Boiti - , Medical Faculty Carl Gustav Carus (Author)
  • Maja von der Hagen - , Department of Paediatrics, Division of Neuropediatrics (Author)
  • Manfred Gossen - , Charité – Universitätsmedizin Berlin, Helmholtz-Zentrum Hereon (Author)
  • Uwe Kornak - , Charité – Universitätsmedizin Berlin, Max Planck Institute for Molecular Genetics (Author)
  • Harald Stachelscheid - , Charité – Universitätsmedizin Berlin (Author)

Abstract

Autosomal recessive osteopetrosis (ARO) is a genetic bone disease that can be caused by mutations in the CLCN7 gene preventing osteoclast-mediated bone resorption. We generated a human induced pluripotent stem cell (hiPSC) line, BIHi002-A, from peripheral blood mononuclear cells of an ARO patient carrying the CLCN7 mutations c.875G>A and c.1208G>A using Sendai viral vectors. The pluripotent identity of the BIHi002-A line was confirmed by their expression of typical markers for undifferentiated hiPSCs, their capacity to differentiate into cells of the three germ layers and by PluriTest analysis. The BIHi002-A line provides a tool for disease modelling and therapy development.

Details

Original languageEnglish
Article number101367
JournalStem cell research
Volume35
Publication statusPublished - Mar 2019
Peer-reviewedYes

External IDs

PubMed 30763735

Keywords

Sustainable Development Goals

ASJC Scopus subject areas