Generation of a gene corrected human isogenic iPSC line (CPGHi001-A-1) from a hearing loss patient with the TMC1 p.M418K mutation using CRISPR/Cas9

使用 CRISPR/Cas9 从患有 TMC1 p.M418K 突变的听力损失患者中生成基因校正的人类同源 iPSC 系 (CPGHi001-A-1)

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作者:Hongyang Wang, Yi Luo, Jin Li, Jing Guan, Shiming Yang, Qiuju Wang

Abstract

TMC1 p.M418K mutation is homologous to that in Beethoven mice, which may induce autosomal dominant non-syndromic progressive hearing loss. Previously, we generated an induced pluripotent stem cells (iPSCs) line (CPGHi001-A) from a hearing loss patient with the TMC1 c.1253 T > A (p.M418K) mutation. Here we genetically corrected the TMC1 c.1253 T > A mutation using CRISPR/Cas9 technology to generate an isogenic control, CPGHi001-A-1. The resulting iPSCs had a normal karyotype, showed pluripotency by immunofluorescence staining, and differentiated into the three germ layers in vitro.

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