生成两条源自波纹肌肉病的窖蛋白病患者的人诱导多能干细胞系（HIMRi002-A 和 HIMRi003-A）。
Generation of two human iPSC lines (HIMRi002-A and HIMRi003-A) derived from Caveolinopathy patients with rippling muscle disease.
机构信息
Department of Neurology, Heimer Institute for Muscle Research, BG-University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany.
Department of Human Genetics, Ruhr-University Bochum, 44801 Bochum, Germany.
出版信息
Stem Cell Res. 2023 Oct;72:103220. doi: 10.1016/j.scr.2023.103220. Epub 2023 Oct 4.
Here we introduce the human induced pluripotent stem cell lines (hiPSCs), HIMRi002-A and HIMRi003-A, generated from cultured dermal fibroblasts of 61-year-old (HIMRi002-A) and 38-year-old (HIMRi003-A) female patients, carrying a known heterozygous pathogenic variant (p.A46T) in the Caveolin 3 (CAV3) gene, via lentiviral expression of OCT4, SOX2, KLF4 and c-MYC. HIMRi002-A and HIMRi003-A display typical embryonic stem cell-like morphology, carry the p.A46T CAV3 gene mutation, express several pluripotent stem cell markers, retain normal karyotype (46, XX) and can differentiate in all three germ layers. We postulate that the HIMRi002-A and HIMRi003-A iPSC lines can be used for the characterization of CAV3-associated pathomechanisms and for developing new therapeutic options.
在这里，我们介绍了通过慢病毒表达 OCT4、SOX2、KLF4 和 c-MYC，从 61 岁（HIMRi002-A）和 38 岁（HIMRi003-A）女性患者培养的皮肤成纤维细胞中生成的人诱导多能干细胞系（hiPSC），HIMRi002-A 和 HIMRi003-A 呈现典型的胚胎干细胞样形态，携带已知杂合致病性变异（p.A46T）的 CAV3 基因，表达几种多能干细胞标志物，保持正常核型（46，XX），并能在所有三个胚层中分化。我们推测，HIMRi002-A 和 HIMRi003-A iPSC 系可用于研究 CAV3 相关发病机制，并开发新的治疗选择。
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