Generation of the induced pluripotent stem cell line from a patient with autosomal recessive ABCA4-mediated Stargardt Macular Dystrophy

Stem Cell Res. 2019 Jan;34:101352. doi: 10.1016/j.scr.2018.11.013. Epub 2018 Nov 30.

Abstract

We report the generation of the human iPSC line LEIi007-A from a patient with autosomal recessive Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene (c.[5461-10 T > C];[4139C > T]). Reprogramming of patient dermal fibroblasts was performed using episomal plasmids containing OCT4, SOX2, KLF4, L-MYC, LIN28, shRNA for p53 and mir302/367 microRNA to establish the clonal iPSC line LEIl007-A. LEIl007-A displayed normal pluripotent stem cell colony morphology, expressed pluripotent stem cell markers, displayed a normal karyotype and differentiated into ectodermal, mesodermal and endodermal germ layer lineages.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • ATP-Binding Cassette Transporters / genetics*
  • Adolescent
  • Base Sequence
  • Cell Culture Techniques / methods*
  • Cell Line
  • Child
  • Female
  • Genes, Recessive*
  • Humans
  • Induced Pluripotent Stem Cells / pathology*
  • Macular Degeneration / congenital*
  • Macular Degeneration / genetics
  • Stargardt Disease

Substances

  • ABCA4 protein, human
  • ATP-Binding Cassette Transporters

Supplementary concepts

  • Stargardt disease 1