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
Summary
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 |