Generation of induced pluripotent stem cells from a patient with hearing loss carrying GJB2 p.V37I mutation
Journal
Stem Cell Research
Journal Volume
33
Pages
51
Date Issued
2018-12-01
Author(s)
Chan, Yen Hui
Cheng, Yen Fu
Huang, Cheng Yen
Hu, Chin Ju
Lu, Ying Chang
Hsu, Chuan Jen
Abstract
© 2018 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.
SDGs
Publisher
ELSEVIER SCIENCE BV
Type
journal article