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

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 aud...

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Published inStem cell research Vol. 47; p. 101910
Main Authors Fukunaga, Ichiro, Shirai, Kyoko, Oe, Yoko, Danzaki, Keiko, Ohta, Sayaka, Shiga, Takahiro, Chen, Cheng, Ikeda, Katsuhisa, Akamatsu, Wado, Kawano, Atsushi, Kamiya, Kazusaku
Format Journal Article
LanguageEnglish
Published England Elsevier B.V 01.08.2020
Elsevier
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Summary: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.
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ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2020.101910