Format

Send to

Choose Destination
Stem Cell Res. 2019 Dec 4;43:101674. doi: 10.1016/j.scr.2019.101674. [Epub ahead of print]

Generation of the induced pluripotent stem cell (hiPSC) line (JUFMDOi004-A) from a patient with hearing loss carrying GJB2 (p.V37I) mutation.

Author information

1
Department of Otorhinolaryngology, Juntendo University Faculty of Medicine, Tokyo, Japan.
2
Center for Genomic and Regenerative Medicine, Juntendo University School of Medicine, Tokyo, Japan.
3
Department of Otorhinolaryngology, Juntendo University Faculty of Medicine, Tokyo, Japan. Electronic address: kkamiya@juntendo.ac.jp.

Abstract

The gap junction beta-2 (GJB2) gene is the most common genetic cause of hereditary deafness worldwide. Especially, V37I mutation in GJB2 is most prevalent in Southeast Asia including Thailand, Malaysia, and Indonesia. Furthermore, it is the second most prevalent cause in Japan and China, and exhibits an audiometric phenotype of mild-to-moderate hearing loss. In this study, we generated induced pluripotent stem cells (iPSC) from peripheral blood mononuclear cells (PBMCs) of patient with homozygous V37I mutation. This iPSC line will be a powerful tool for investigating the pathogenesis and for developing a treatment for GJB2-related hearing loss.

PMID:
31926383
DOI:
10.1016/j.scr.2019.101674
Free full text

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center