Autosomal recessive osteopetrosis (ARO) is a rare inherited disorder leading to increased bone density with impairment in bone resorption. Among the genes responsible for ARO, the TCIRG1 gene, coding for the a3 subunit of the osteoclast proton pump, is mutated in more than 50% of the cases, increasing the importance of TCIRG1-iPSCs as disease model. We generated 3 iPSC clones derived from Peripheral Blood Mononuclear Cells (PBMCs) of a patient carrying the heterozygous mutations p.Y512X and c.2236 + 1G > A. A Sendai virus-based vector was used and the iPSCs were characterized for genetic identity to parental cells, genomic integrity, pluripotency, and differentiation ability.

常染色体隐性骨质疏松症（ARO）是一种罕见的遗传性疾病，可导致骨密度增加而骨吸收受损。在负责ARO的基因中，编码破骨细胞质子泵a3亚基的TCIRG1基因在超过50％的病例中发生了突变，从而增加了TCIRG1-iPSC作为疾病模型的重要性。我们从携带杂合突变p.Y512X和c.2236 + 1G> A的患者的外周血单个核细胞（PBMC）生成了3个iPSC克隆 。使用了基于仙台病毒的载体，并对iPSCs鉴定了与亲代细胞的遗传同一性，基因组完整性，多能性和分化能力。