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


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. Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Hennig AF, Rössler U, Boiti F, von der Hagen M, Gossen M, Kornak U, Stachelscheid H
Journal Stem cell research
Publication Date 2019 Mar;35:101367
PubMed 30763735
DOI 10.1016/j.scr.2018.101367

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