Generation of a gene corrected human isogenic iPSC line (CPGHi002-A-1) from a DDOD patient with heterozygous c.1516 C>T mutation in the ATP6V1B2 gene
Summary
Dominant deafness-onychodystrophy (DDOD) syndrome is a rare autosomal dominant disorder caused by mutations in ATP6V1B2 gene. We previously generated an induced pluripotent stem cell (iPSC) line (CPGHi002-A) from a DDOD patient with a heterozygous c.1516 C>T mutation in the ATP6V1B2 gene. Here we genetically corrected the c.1516 C>T mutation in the ATP6V1B2 gene using CRISPR/Cas9 technology to generate an isogenic control, CPGHi002-A-1. The characterization of CPGHi002-A-1 demonstrates normal karyotype, pluripotent state, and potential to differentiate in vitro towards endoderm, mesoderm, and ectoderm. Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Gao X, Qiu SW, Wang WQ, Kang DY, Su N, Dai P, Yuan YY |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2021 May;53:102271 |
| PubMed | 33714068 |
| DOI | 10.1016/j.scr.2021.102271 |