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

doi:10.1016/j.scr.2018.101367

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

Stem Cell Res. 2019 Mar:35:101367. doi: 10.1016/j.scr.2018.101367. Epub 2018 Dec 26.

Authors

Anna Floriane Hennig¹, Uta Rössler², Franziska Boiti³, Maja von der Hagen³, Manfred Gossen⁴, Uwe Kornak⁵, Harald Stachelscheid⁶

Affiliations

¹ 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. Electronic address: anna-floriane.hennig@charite.de.
² 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.
³ Abteilung Neuropädiatrie, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
⁴ Berlin-Brandenburg Center for Regenerative Therapies, Charité Virchow Campus, Berlin, Germany; Institute of Biomaterial Science, Helmholtz-Zentrum Geesthacht, Teltow, Germany.
⁵ 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.
⁶ 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.

PMID: 30763735
DOI: 10.1016/j.scr.2018.101367

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cell Line*
Chloride Channels* / genetics
Chloride Channels* / metabolism
Humans
Induced Pluripotent Stem Cells* / metabolism
Induced Pluripotent Stem Cells* / pathology
Infant
Leukocytes, Mononuclear* / metabolism
Leukocytes, Mononuclear* / pathology
Male
Mutation*
Osteopetrosis* / genetics
Osteopetrosis* / metabolism
Osteopetrosis* / pathology

Substances

CLCN7 protein, human
Chloride Channels