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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.
Fukunaga I, Shirai K, Oe Y, Danzaki K, Ohta S, Shiga T, Chen C, Ikeda K, Akamatsu W, Kawano A, Kamiya K. Fukunaga I, et al. Among authors: kamiya k. Stem Cell Res. 2020 Jul 19;47:101910. doi: 10.1016/j.scr.2020.101910. Online ahead of print. Stem Cell Res. 2020. PMID: 32745712 Free article.
Generation of two iPSC lines from siblings of a homozygous patient with hearing loss and a heterozygous carrier with normal hearing carrying p.G45E/Y136X mutation in GJB2.
Fukunaga I, Oe Y, Danzaki K, Ohta S, Chen C, Iizumi M, Shiga T, Matsuoka R, Anzai T, Hibiya-Motegi R, Tajima S, Ikeda K, Akamatsu W, Kamiya K. Fukunaga I, et al. Among authors: kamiya k. Stem Cell Res. 2021 May;53:102290. doi: 10.1016/j.scr.2021.102290. Epub 2021 Mar 16. Stem Cell Res. 2021. PMID: 33780732 Free article.
Modeling gap junction beta 2 gene-related deafness with human iPSC.
Fukunaga I, Oe Y, Danzaki K, Ohta S, Chen C, Shirai K, Kawano A, Ikeda K, Kamiya K. Fukunaga I, et al. Among authors: kamiya k. Hum Mol Genet. 2021 Jul 9;30(15):1429-1442. doi: 10.1093/hmg/ddab097. Hum Mol Genet. 2021. PMID: 33997905
1,809 results