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


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.

Authors Xiaojing W, Yanyan M, Ruonan D, Xiaolin L, Haiyan Z, Jian M, Yi L, Wenjie S, Qiji L
Journal Stem cell research
Publication Date 2020 Mar;43:101727
PubMed 32045731
DOI 10.1016/j.scr.2020.101727

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