期刊
STEM CELLS TRANSLATIONAL MEDICINE
卷 5, 期 5, 页码 561-571出版社
WILEY
DOI: 10.5966/sctm.2015-0252
关键词
Human induced pluripotent stem cells; MYO7A; Deafness; Genetic correction; Inner ear hair cells; Rescue
资金
- National Basic Research Program of China [2012CB967902, 2014CB541705]
- National Development Program of Important Scientific Instruments [2013YQ030595]
- Strategically Guiding Scientific Special Project from Chinese Academy of Sciences [XDA04020202-23]
- Opening Foundation of State Key Laboratory of Space Medicine Fundamentals and Application [SMFA12K02]
- TZ-1 Application Program [KYTZ01-0901-FB-003]
- Chinese National Science Foundation [81570932]
The genetic correction of induced pluripotent stem cells (iPSCs) induced from somatic cells of patients with sensorineural hearing loss (caused by hereditary factors) is a promising method for its treatment. The correction of gene mutations in iPSCs could restore the normal function of cells and provide a rich source of cells for transplantation. In the present study, iPSCs were generated from a deaf patient with compound heterozygous MYO7A mutations (c.1184G>A and c.4118C>T; P-iPSCs), the asymptomatic father of the patient (MYO7A c.1184G>A mutation; CF-iPSCs), and a normal donor (MYO7A(WT/WT); C-iPSCs). One of MYO7A mutation sites (c.4118C>T) in the P-iPSCs was corrected using CRISPR/Cas9. The corrected iPSCs (CP-iPSCs) retained cell pluripotency and normal karyotypes. Hair cell-like cells induced from CP-iPSCs showed restored organization of stereocilia-like protrusions; moreover, the electrophysiological function of these cells was similar to that of cells induced from C-iPSCs and CF-iPSCs. These results might facilitate the development of iPSC-based gene therapy for genetic disorders.
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