通过重编程一位 USH2A 相关的 Usher 综合征患者外周血单个核细胞建立 iPS 细胞系（KLRMMEi002-A）。
Establishment of iPS cell line (KLRMMEi002-A) by reprogramming peripheral blood mononuclear cells from a patient with USH2A-associated Usher syndrome.
机构信息
Ophthalmology Department, The First Affiliated Hospital of Jinan University, Guangzhou, China.
Ophthalmology Department, The First Affiliated Hospital of Jinan University, Guangzhou, China; Key Laboratory for Regenerative Medicine, Ministry of Education, Jinan University, Guangzhou 510632, China; Institute of Ophthalmology, Medical College, Jinan University, Guangzhou 510632, China.
出版信息
Stem Cell Res. 2022 Apr;60:102699. doi: 10.1016/j.scr.2022.102699. Epub 2022 Feb 2.
USH type 2 (USH2) is an autosomal recessive disorder that is characterized by inherited retinopathies and sensorineural hearing loss. USH type 2 (USH2) is frequently caused by USH2A mutations, which account for 74-90% of USH2 cases. We used peripheral blood mononuclear cells (PBMCs) from a USH2 patient with a USH2A gene mutation (c.8559-2A > G) to create an induced pluripotent stem (iPS) cell line. The patient-specific iPS cell line with the specific point mutation exhibited typical iPS cell characteristics, and it can be used as a model to investigate the pathogenic mechanisms underlying USH2A-associated retinal degeneration and sensorineural hearing loss.
USH 型 2（USH2）是一种常染色体隐性遗传病，其特征为遗传性视网膜病变和感觉神经性听力损失。USH2 型（USH2）通常由 USH2A 基因突变引起，占 USH2 病例的 74-90%。我们使用 USH2 患者外周血单核细胞（PBMCs）创建了一个具有 USH2A 基因突变（c.8559-2A > G）的诱导多能干细胞（iPS）细胞系。具有特定点突变的患者特异性 iPS 细胞系表现出典型的 iPS 细胞特征，可作为研究 USH2A 相关视网膜变性和感觉神经性听力损失发病机制的模型。
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