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Generation of a human induced pluripotent stem cell line (SDUBMSi001-A) from a hereditary spastic paraplegia patient carrying kif1a c.773C>T missense mutation.
Stem Cell Research ( IF 0.8 ) Pub Date : 2020-02-04 , DOI: 10.1016/j.scr.2020.101727 Wang Xiaojing 1 , Ma Yanyan 2 , Duan Ruonan 1 , Liu Xiaolin 1 , Zhang Haiyan 2 , Ma Jian 2 , Liu Yi 2 , Sun Wenjie 1 , Liu Qiji 3
更新日期：2020-02-04
Stem Cell Research ( IF 0.8 ) Pub Date : 2020-02-04 , DOI: 10.1016/j.scr.2020.101727 Wang Xiaojing 1 , Ma Yanyan 2 , Duan Ruonan 1 , Liu Xiaolin 1 , Zhang Haiyan 2 , Ma Jian 2 , Liu Yi 2 , Sun Wenjie 1 , Liu Qiji 3
Affiliation
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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