Generation of an integration-free induced pluripotent stem cell line, FJMUi001-A, from a hereditary spastic paraplegia patient carrying compound heterozygous p.P498L and p.R618W mutations in CAPN1 (SPG76)
Generation of an integration-free induced pluripotent stem cell line, FJMUi001-A, from a hereditary spastic paraplegia patient carrying compound heterozygous p.P498L and p.R618W mutations in CAPN1 (SPG76)
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从携带 CAPN1 (SPG76) 复合杂合 p.P498L 和 p.R618W 突变的遗传性痉挛性截瘫患者中生成无整合诱导多能干细胞系 FJMUi001-A
DOI：
10.1016/j.scr.2018.11.015
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发表时间：
2019-01-01
影响因子：
1.2
通讯作者：
Lin, Xiang
中科院分区：
文献类型：
--
作者：
Lu, Ying-qian;Dong, En-lin;Lin, Xiang
人类 iPS 细胞系 hiPS-SPG76 (FJMUi001-A) 源自一名 42 岁男性遗传性痉挛性截瘫患者的皮肤成纤维细胞，该患者携带 CAPN1 基因中的复合杂合 p.P498L (c.1493C > T) 和 p.R618W (c.1852C > T) 突变，由编码OCT3/4、SOX2、KLF4 和 c-MYC。建立的 hiPS-SPG76 不含基因组整合的重编程基因，具有正常的核型，表达多能性标记，并且具有在体外和体内形成三个胚层的能力。这种产生的 hiPS 细胞系为研究 SPG76 的发病机制提供了有用的资源。
The human iPS cell line, hiPS-SPG76 (FJMUi001-A), derived from skin fibroblasts from a 42-year-old male hereditary spastic paraplegia patient carrying compound heterozygous p.P498L (c.1493C > T) and p.R618W (c.1852C > T) mutations in the CAPN1 gene, was generated by non-integrative reprogramming vectors encoding OCT3/4, SOX2, KLF4, and c-MYC. The established hiPS-SPG76 was free of genomically integrated reprogramming genes, had a normal karyotype, expressed pluripotency markers, and had capacity to form three germ layers in vitro and in vivo. This generated hiPS cell line offers a useful resource to study the pathogenesis of SPG76.