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 Res. 2020 Mar:43:101727. doi: 10.1016/j.scr.2020.101727. Epub 2020 Feb 4.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Differentiation
  • Humans
  • Induced Pluripotent Stem Cells / metabolism*
  • Kinesins / genetics*
  • Male
  • Middle Aged
  • Mutation, Missense
  • Spastic Paraplegia, Hereditary / genetics*


  • KIF1A protein, human
  • Kinesins