Generation of a human induced pluripotent stem cell line (SDUBMSi001-A) from a hereditary spastic paraplegia patient carrying kif1a c.773C>T missense mutation.

Wang Xiaojing, Ma Yanyan, Duan Ruonan, Liu Xiaolin, Zhang Haiyan, Ma Jian, Liu Yi, Sun Wenjie, Liu Qiji

Stem cell research 2020 Mar

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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. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Citation

Wang Xiaojing, Ma Yanyan, Duan Ruonan, Liu Xiaolin, Zhang Haiyan, Ma Jian, Liu Yi, Sun Wenjie, Liu Qiji. 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. 2020 Mar;43:101727