Generation of induced pluripotent stem cells from a patient with hearing loss carrying GJB2 p.V37I mutation
Summary
Recessive mutations in the GJB2 gene are the most common genetic cause of hearing loss in humans. By using the Sendai-virus delivery system, we generated induced pluripotent stem cells (iPSCs) from the peripheral blood mononuclear cells of a female patient with the p.V37I (c.109G > A) mutation, a GJB2 mutation highly prevalent in the Asian population. The resulting iPSCs had a normal karyotype. The iPSCs also showed pluripotency, as confirmed by immunofluorescence staining, and differentiated into the three germ layers in vivo. This cellular model will provide a useful platform for investigating the pathogenic mechanisms of deafness related to GJB2 mutations. Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Chan YH, Cheng YF, Chen YT, Huang CY, Lin CH, Hu CJ, Lu YC, Wu CC, Hsu CJ |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2018 Dec;33:51-55 |
| PubMed | 30316039 |
| DOI | 10.1016/j.scr.2018.10.002 |