Establishment of iPS cell line (KLRMMEi002-A) by reprogramming peripheral blood mononuclear cells from a patient with USH2A-associated Usher syndrome
Establishment of iPS cell line (KLRMMEi002-A) by reprogramming peripheral blood mononuclear cells from a patient with USH2A-associated Usher syndrome
复制标题
通过重编程 USH2A 相关 Usher 综合征患者的外周血单核细胞建立 iPS 细胞系 (KLRMMEi002-A)
DOI：
10.1016/j.scr.2022.102699
复制
发表时间：
2022-02-10
影响因子：
1.2
通讯作者：
Chen, Jiansu
中科院分区：
文献类型：
--
作者：
Liang, Liying;Xue, Yunxia;Chen, Jiansu
USH2型(USH2)是一种常染色体隐性遗传性疾病，以遗传性视网膜病变和感音神经性耳聋为特征。USH2型(USH2)是由USH2A突变引起的常见疾病，占USH2的74-90%。我们使用一例USH2A基因突变的USH2患者的外周血单核细胞(PBMC)(C.8559-2A和GT；G)创建了诱导多能干细胞(IPS)细胞系。具有特定点突变的患者特异性iPS细胞株具有典型的iPS细胞特征，可以作为研究USH2A相关性视网膜变性和感音神经性听力损失的致病机制的模型。
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.