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-Reference-Cited by-同舟云学术

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

Published:2020-08 Issue: Volume:47 Page:101910
ISSN:1873-5061
Container-title:Stem Cell Research
language:en
Short-container-title:Stem Cell Research

Author:

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

Funder

JSPS KAKENHI

Publisher

Elsevier BV

Subject

Cell Biology,Developmental Biology,General Medicine

Reference5 articles.

1. GJB2-associated hearing loss: systematic review of worldwide prevalence, genotype, and auditory phenotype;Chan;Laryngoscope,2014

2. In vitro models of GJB2-related hearing loss recapitulate Ca2+ transients via a gap junction characteristic of developing cochlea;Fukunaga;Stem Cell Rep.,2016

3. Assembly of the cochlear gap junction macromolecular complex requires connexin 26;Kamiya;J. Clin. Invest.,2014

4. Clinical features of patients with GJB2 (connexin 26) mutations: severity of hearing loss is correlated with genotypes and protein expression patterns;Oguchi;J. Hum. Genet.,2005

5. Ethnic-specific spectrum of GJB2 and SLC26A4 mutations: their origin and a literature review;Tsukada;Ann. Otol. Rhinol. Laryngol.,2015

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1. Generation of an induced pluripotent stem cell line from a late-onset, progressive high frequency hearing loss patient due to mutation in CDH23;Stem Cell Research;2024-09

2. Induced Pluripotent Stem Cells, a Stepping Stone to In Vitro Human Models of Hearing Loss;Cells;2022-10-21

3. Analysis of Genetic Variations in Connexin 26 (GJB2) Gene among Nonsyndromic Hearing Impairment: Familial Study;Global Medical Genetics;2022-02-21

4. Modeling gap junction beta 2 gene-related deafness with human iPSC;Human Molecular Genetics;2021-05-17