Abstract
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.
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