Generation of hereditary spastic paraplegia patient-derived induced pluripotent stem cell line UJSi003-A

Stem Cell Res. 2024 Dec:81:103535. doi: 10.1016/j.scr.2024.103535. Epub 2024 Aug 13.

Abstract

Hereditary spastic paraplegia (HSP) is a rare neurodegenerative disorder with the predominant clinical manifestation of spasticity in the lower extremities. Patients with HSP experience spastic paralysis in both lower limbs, leading to progressive walking difficulties, increased reflexes, spasms, and extensor plantar responses. We successfully generated induced pluripotent stem cells (iPSCs) from peripheral blood mononuclear cells (PBMCs) obtained from a patient diagnosed with HSP. The iPSCs exhibited a normal karyotype, expressed pluripotency markers, and differentiated into the three germ layers in vitro.

MeSH terms

  • Cell Differentiation
  • Cell Line
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Leukocytes, Mononuclear / cytology
  • Leukocytes, Mononuclear / metabolism
  • Male
  • Spastic Paraplegia, Hereditary* / genetics
  • Spastic Paraplegia, Hereditary* / metabolism
  • Spastic Paraplegia, Hereditary* / pathology