Generation of two induced pluripotent stem cell lines from PBMCs of siblings carrying c.235delC mutation in the GJB2 gene associated with sensorineural hearing loss

Ichiro Fukunaga; Kyoko Shirai; Yoko Oe; Keiko Danzaki; Sayaka Ohta; Takahiro Shiga; Cheng Chen; Katsuhisa Ikeda; Wado Akamatsu; Atsushi Kawano; Kazusaku Kamiya

doi:10.1016/j.scr.2020.101910

Generation of two induced pluripotent stem cell lines from PBMCs of siblings carrying c.235delC mutation in the GJB2 gene associated with sensorineural hearing loss

Stem Cell Res. 2020 Jul 19:47:101910. doi: 10.1016/j.scr.2020.101910. Online ahead of print.

Authors

Affiliations

¹ Department of Otorhinolaryngology, Juntendo University, Faculty of Medicine, Tokyo, Japan.
² Department of Otolaryngology, Head and Neck Surgery, Tokyo Medical University, Tokyo, Japan.
³ Center for Genomic and Regenerative Medicine, Juntendo University School of Medicine, Tokyo, Japan.
⁴ Department of Otorhinolaryngology, Juntendo University, Faculty of Medicine, Tokyo, Japan. Electronic address: [email protected].

PMID: 32745712
DOI: 10.1016/j.scr.2020.101910

Abstract

The gap junction beta-2 (GJB2) gene is the most common genetic cause of hereditary deafness worldwide. Especially, the 235delC mutation in GJB2 is most prevalent in East Asia. In this study, we generated two iPSC lines from PBMCs of siblings carrying homozygous 235delC mutation which exhibits an audiometric phenotype of profound hearing loss. These iPSC lines had normal karyotype, showed expression of pluripotency markers, and could differentiate into three germ layers. These disease specific iPSC lines may be useful for the construction of the disease models and for the elucidation of pathogenesis in GJB2-related deafness.