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

Anna Floriane Hennig; Uta Rössler; Franziska Boiti; Maja von der Hagen; Manfred Gossen; Uwe Kornak; Harald Stachelscheid

Stem Cell Research (Mar 2019)

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

Anna Floriane Hennig,
Uta Rössler,
Franziska Boiti,
Maja von der Hagen,
Manfred Gossen,
Uwe Kornak,
Harald Stachelscheid

Affiliations

Anna Floriane Hennig: Charité – Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt - Universität zu Berlin, Berlin Institute of Health, Berlin-Brandenburg Center for Regenerative Therapies, Berlin, Germany; Charité – Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt - Universität zu Berlin, Berlin Institute of Health, Institute for Medical Genetics and Human Genetics, Berlin, Germany; Corresponding author.
Uta Rössler: Charité – Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt - Universität zu Berlin, Berlin Institute of Health, Berlin-Brandenburg Center for Regenerative Therapies, Berlin, Germany; Charité – Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt - Universität zu Berlin, Berlin Institute of Health, Institute for Medical Genetics and Human Genetics, Berlin, Germany; Berlin Institute of Health (BIH), Berlin, Germany
Franziska Boiti: Abteilung Neuropädiatrie, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany
Maja von der Hagen: Abteilung Neuropädiatrie, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany
Manfred Gossen: Berlin-Brandenburg Center for Regenerative Therapies, Charité Virchow Campus, Berlin, Germany; Institute of Biomaterial Science, Helmholtz-Zentrum Geesthacht, Teltow, Germany
Uwe Kornak: Charité – Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt - Universität zu Berlin, Berlin Institute of Health, Berlin-Brandenburg Center for Regenerative Therapies, Berlin, Germany; Charité – Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt - Universität zu Berlin, Berlin Institute of Health, Institute for Medical Genetics and Human Genetics, Berlin, Germany; Max Planck Institute for Molecular Genetics, Berlin, Germany
Harald Stachelscheid: Charité – Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt - Universität zu Berlin, Berlin Institute of Health, Berlin-Brandenburg Center for Regenerative Therapies, Berlin, Germany; Berlin Institute of Health (BIH), Berlin, Germany

Journal volume & issue: Vol. 35

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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