从携带 EYA4 基因突变的感音神经性听力损失患者中生成了 4 株诱导多能干细胞系（KEIUi004-A、KEIUi005-A、KEIUi006-A 和 KEIUi007-A）。
Generation of four induced pluripotent stem cell lines (KEIUi004-A, KEIUi005-A, KEIUi006-A, and KEIUi007-A) from patients with sensorineural hearing loss with mutation in EYA4 gene.
机构信息
Department of Molecular Genetics, Kitasato University School of Medicine, Kanagawa, Japan; Molecular Genetics Unit, Kitasato University Graduate School of Medical Science, Kanagawa, Japan; Department of Otolaryngology, Head and Neck Surgery, Keio University School of Medicine, Tokyo, Japan.
Department of Molecular Genetics, Kitasato University School of Medicine, Kanagawa, Japan; Molecular Genetics Unit, Kitasato University Graduate School of Medical Science, Kanagawa, Japan; Division of Hearing and Balance Research, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan.
出版信息
Stem Cell Res. 2024 Sep;79:103489. doi: 10.1016/j.scr.2024.103489. Epub 2024 Jul 8.
Disease-related cells differentiated from patient-derived iPSCs are useful for elucidating the pathophysiological mechanisms underlying these diseases. In this study, four iPSC lines were established from independent patients with sensorineural hearing loss and a mutation in EYA4. These iPSCs showed pluripotency, the capacity to differentiate into three germ layers, and normal karyotypes, suggesting that these lines are useful for the pathological study of sensorineural hearing loss and drug screening for ear disorders.
从患者来源的 iPSC 分化而来的与疾病相关的细胞可用于阐明这些疾病的病理生理机制。在这项研究中，从四名患有感觉神经性听力损失和 EYA4 突变的独立患者中建立了四个 iPSC 系。这些 iPSC 表现出多能性、向三个胚层分化的能力和正常核型，表明这些系可用于感觉神经性听力损失的病理研究和耳疾药物筛选。
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