Integration-free induced pluripotent stem cells derived from a patient with autosomal recessive Alport syndrome (ARAS)

Stem Cell Res. 2017 Dec;25:1-5. doi: 10.1016/j.scr.2017.08.021. Epub 2017 Sep 14.

Abstract

A skin biopsy was obtained from a 25-year-old female patient with autosomal recessive Alport syndrome (ARAS) with the homozygous COL4A3 mutation c.345delG, p.(P166Lfs*37). Dermal fibroblasts were derived and reprogrammed by nucleofection with episomal plasmids carrying OCT3/4, SOX2, KLF4 LIN28, L-MYC and p53shRNA. The generated induced Pluripotent Stem Cell (iPSC) clone AS FiPS1 Ep6F-2 was free of genomically integrated reprogramming genes, had the specific homozygous mutation, a stable karyotype, expressed pluripotency markers and generated embryoid bodies which were differentiated towards the three germ layers in vitro. This iPSC line offers a useful resource to study Alport syndrome pathomechanisms and drug testing.

MeSH terms

  • Adult
  • Cells, Cultured
  • Cellular Reprogramming / genetics
  • Cellular Reprogramming / physiology
  • Exons / genetics
  • Female
  • Fibroblasts / cytology
  • Fibroblasts / metabolism
  • Humans
  • In Vitro Techniques
  • Induced Pluripotent Stem Cells / cytology*
  • Induced Pluripotent Stem Cells / metabolism*
  • Kruppel-Like Transcription Factors / genetics
  • Kruppel-Like Transcription Factors / metabolism
  • Mutation / genetics
  • Nephritis, Hereditary / metabolism*
  • Octamer Transcription Factor-3 / genetics
  • Octamer Transcription Factor-3 / metabolism
  • Organic Cation Transport Proteins / genetics
  • Organic Cation Transport Proteins / metabolism
  • Plasmids / genetics
  • Proto-Oncogene Proteins c-myc / genetics
  • Proto-Oncogene Proteins c-myc / metabolism
  • RNA-Binding Proteins / genetics
  • RNA-Binding Proteins / metabolism
  • SOXB1 Transcription Factors / genetics
  • SOXB1 Transcription Factors / metabolism
  • Tumor Suppressor Protein p53 / genetics
  • Tumor Suppressor Protein p53 / metabolism

Substances

  • GKLF protein
  • Kruppel-Like Transcription Factors
  • Lin28A protein, human
  • MYCL protein, human
  • Octamer Transcription Factor-3
  • Organic Cation Transport Proteins
  • POU5F1 protein, human
  • Proto-Oncogene Proteins c-myc
  • RNA-Binding Proteins
  • SOXB1 Transcription Factors
  • Tumor Suppressor Protein p53
  • solute carrier family 22 (organic cation transporter), member 3