Generation of induced pluripotent stem cells (ARO-iPSC1-11) from a patient with autosomal recessive osteopetrosis harboring the c.212 + 1G > T mutation in SNX10 gene

Abstract Pathogenic sequence variants in the Sorting Nexin 10 ( SNX10 ) gene have been associated with autosomal recessive osteopetrosis (ARO) in human. In this study, an induced pluripotent stem cell (iPSC) line (ARO-iPSC1-11) was generated from an ARO patient carrying the homozygous c.212 + 1G > T mutation in SNX10 , using a retroviral-based reprogramming protocol. Characterization confirmed that the generated iPSCs expressed pluripotency markers, displayed normal karyotype, showed pluripotent differentiation capacity and retained the targeted mutation. Disease modeling with this ARO patient-specific iPSC line will shed further light on the critical role of the SNX10 mutation in ARO development.