Generation of patient-specific pluripotent induced stem cell line UFRJi007-A from a Brazilian familial amyotrophic lateral sclerosis patient

Stem Cell Res. 2019 Aug:39:101490. doi: 10.1016/j.scr.2019.101490. Epub 2019 Jun 29.

Abstract

Induced pluripotent stem cell (iPSC) line were generated from erythroblasts of a Brazilian patient with familiar form of amyotrophic lateral sclerosis (ALS). NGS analysis demonstrated that patient carried a mutation in SOD1 gene, as well as a deletion in FUS gene. CytoTune™-iPS 2.0 Sendai Reprogramming Kit (containing the reprogramming factors OCT3/4, KLF4, SOX2 and cMYC) was used to generate the cell lines. The iPSCs express pluripotency markers, have normal karyotype and differentiated spontaneously in the three germ layers. The expression of Sendai virus was lost in all iPSC lines after 15 passages.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amyotrophic Lateral Sclerosis / metabolism
  • Brazil
  • Cell Line
  • Humans
  • Induced Pluripotent Stem Cells / cytology*
  • Karyotype
  • Kruppel-Like Factor 4
  • Kruppel-Like Transcription Factors / metabolism
  • Mutation / genetics
  • Organic Cation Transport Proteins / metabolism
  • SOXB1 Transcription Factors / metabolism
  • Superoxide Dismutase-1 / genetics

Substances

  • KLF4 protein, human
  • Kruppel-Like Factor 4
  • Kruppel-Like Transcription Factors
  • Organic Cation Transport Proteins
  • SOX2 protein, human
  • SOXB1 Transcription Factors
  • solute carrier family 22 (organic cation transporter), member 3
  • Superoxide Dismutase-1