Establishment of human induced pluripotent stem cell line (CPGHi002-A) from a 10-month-old female patient with DDOD syndrome carrying a heterozygous c.1516 C > T mutation in ATP6V1B2


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. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Gao X, Qiu SW, Feng ML, Huang SS, Kang DY, Han MY, Dai P, Yuan YY
Journal Stem cell research
Publication Date 2020 Oct;48:101986
PubMed 32961450
DOI 10.1016/j.scr.2020.101986

Research Projects

Cell Lines