Generation of a human induced pluripotent stem cell line (SDUBMSi001-A) from a hereditary spastic paraplegia patient carrying kif1a c.773C>T missense mutation
从携带 kif1a c.773C>T 错义突变的遗传性痉挛性截瘫患者中生成人类诱导性多能干细胞系 (SDUBMSi001-A)
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作者:Wang Xiaojing, Ma Yanyan, Duan Ruonan, Liu Xiaolin, Zhang Haiyan, Ma Jian, Liu Yi, Sun Wenjie, Liu Qiji
| 期刊: | Stem Cell Research | 影响因子: | 0.800 |
| 时间: | 2020 | 起止号: | 2020 Mar:43:101727. |
| doi: | 10.1016/j.scr.2020.101727 | 种属: | Human |
| 研究方向: | 发育与干细胞 | 细胞类型: | 干细胞 |
Abstract
KIF1A gene encodes the kinesin 1a protein, an axonal motor protein participating in axonal transport. Variants in KIF1A were identified in different forms of neurodegenerative diseases. Here, we generated induced pluripotent stem cells (iPSCs) from a Chinese hereditary spastic paraplegia (HSP) patient carrying a compound heterozygous c.773C>T(p.T258M) mutation in KIF1A gene by reprogramming peripheral blood cells with non-integrative vectors. The generated iPSC line (SDUBMSi001-A) had a normal karyotype, expressed pluripotency markers and could be differentiated into three germ layers in vitro.
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