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.

Xue Gao, Shi-Wei Qiu, Wei-Qian Wang, Dong-Yang Kang, Ning Su, Pu Dai, Yong-Yi Yuan

Stem cell research 2021 May

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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.

Citation

Xue Gao, Shi-Wei Qiu, Wei-Qian Wang, Dong-Yang Kang, Ning Su, Pu Dai, Yong-Yi Yuan. 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. Stem cell research. 2021 May;53:102271