Lab resource: Single cell line generation and characterization of a human-derived induced pluripotent stem cell line (IGIBi005-A) from a patient with spastic paraplegia/ataxia/ALS phenotype due to the mutation of the gene Kinesin Family Member 5A (KIF5A)

Stem Cell Res. 2022 Oct:64:102904. doi: 10.1016/j.scr.2022.102904. Epub 2022 Aug 27.

Abstract

Human Kinesin Family Member 5A (KIF5A) gene mutations have been identified as a putative genetic cause of amyotrophic lateral sclerosis (ALS). Disease modelling using human-induced pluripotent stem cells (HiPSCs) is the next-generation approach to studying numerous human diseases. For the current investigation, we report the generation of patient-specific KIF5A iPSC lines with a mutation at the splice site mutation (c.3020 + 3 A > T) in the intronic region. The resulting line displayed markers for pluripotency, a healthy karyotype, the ability to differentiate into three germ layers in vitro, vector clearance, the KIF5A mutation, STR-based genomic identity, and contamination-free culture.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amyotrophic Lateral Sclerosis* / genetics
  • Amyotrophic Lateral Sclerosis* / metabolism
  • Cell Line
  • Family
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Inducible T-Cell Co-Stimulator Protein / genetics
  • Inducible T-Cell Co-Stimulator Protein / metabolism
  • Kinesins / genetics
  • Mutation / genetics
  • Paraplegia / metabolism
  • Phenotype
  • Spinocerebellar Ataxias* / metabolism

Substances

  • Kinesins
  • Inducible T-Cell Co-Stimulator Protein
  • KIF5A protein, human

Supplementary concepts

  • Spastic Ataxia