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 Feb 25;53:102271
PubMed 33714068
DOI 10.1016/j.scr.2021.102271

Research Projects

Cell Lines