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

AF Hennig, U Rössler, F Boiti, M von der Hagen… - Stem Cell Research, 2019 - Elsevier
AF Hennig, U Rössler, F Boiti, M von der Hagen, M Gossen, U Kornak, H Stachelscheid
Stem Cell Research, 2019Elsevier
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 …
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.
Elsevier