Dominant deafness-onychodystrophy (DDOD) syndrome is a rare, autosomal dominant inherited disorder with no concrete therapies in human. We previously identified c.1516 C > T (p.Arg506*) in ATP6V1B2 as cause of DDOD syndrome, accounting for all cases of this genetic disorder. The induced pluripotent stem cell (iPSC) line was generated using the non-integrating episomal vector method from peripheral blood mononuclear cells (PBMCs) of a 10-month-old female DDOD patient with heterozygous ATP6V1B2 c.1516 C > T variant. This cell line may serve as a useful model for studying the pathogenic mechanisms and treatment of DDOD syndrome.

显性耳聋-强直性肌营养不良（DDOD）综合征是一种罕见的常染色体显性遗传疾病，在人类中没有具体疗法。我们先前在ATP6V1B2中将c.1516 C> T（p.Arg506 *）确定为DDOD综合征的病因，这说明了该遗传疾病的所有病例。诱导多能干细胞（iPSC）系是使用非整合型附加体载体方法从10个月大的DDOD杂合ATP6V1B2 c.1516 C> T变异女性患者的外周血单个核细胞（PBMC）中产生的。该细胞系可以用作研究DDOD综合征的致病机理和治疗的有用模型。