Four disease-specific induced pluripotent stem cell (iPSC) lines were respectively derived from peripheral blood mononuclear cells of two affected individuals in a family affected by familial neurohypophyseal diabetes insipidus carrying the c.314G>C mutation. The expression of pluripotency markers (NANOG, OCT4, and SOX2), maintenance of a normal karyotype, absence of episomal vectors used for iPSC generation, and presence of the original pathogenic mutation were confirmed for each iPSC line. The ability to differentiate into three germ layers was confirmed by a teratoma formation assay. These iPSC lines can help in disease recapitulation in vitro using organoids and elucidation of disease mechanisms.

四个疾病特异性诱导多能干细胞（iPSC）系分别来自两个患有c.314G> C突变的家族性神经下垂体尿崩症患者的两个受影响个体的外周血单核细胞。对于每条iPSC品系，均证实了多能性标记（NANOG，OCT4和SOX2）的表达，正常核型的维持，不存在用于iPSC产生的附加型载体以及原始病原性突变。通过畸胎瘤形成测定法证实了分化为三个胚层的能力。这些iPSC品系可以使用类器官和阐明疾病机制来帮助体外进行疾病概述。