@misc{henning_generation_of_2019, author={Henning, A.F., Roessler, U., Boiti, F., Hagen, M.von der, Gossen, M., Kornak, U., Stachelscheid, H.}, title={Generation of a human induced pluripotent stem cell line (BIHi002-A) from a patient with CLCN7-related infantile malignant autosomal recessive osteopetrosis}, year={2019}, howpublished = {journal article}, doi = {https://doi.org/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.}, note = {Online available at: \url{https://doi.org/10.1016/j.scr.2018.101367} (DOI). Henning, A.; Roessler, U.; Boiti, F.; Hagen, M.; Gossen, M.; Kornak, U.; Stachelscheid, H.: Generation of a human induced pluripotent stem cell line (BIHi002-A) from a patient with CLCN7-related infantile malignant autosomal recessive osteopetrosis. Stem Cell Research. 2019. vol. 35, 101367. DOI: 10.1016/j.scr.2018.101367}}