Generation of two induced pluripotent stem cell lines from a patient with Stargardt Macular Dystrophy caused by the c.768G>T and c.6079C>T mutations in ABCA4

Stem Cell Res. 2020 Oct;48:101947. doi: 10.1016/j.scr.2020.101947. Epub 2020 Aug 5.

Abstract

Autosomal recessive Stargardt disease is the most common cause of inherited retinal disease. In this report, we describe the generation and characterization of two human induced pluripotent stem cell (iPSC) lines from a patient with compound heterozygous mutations in the ABCA4 gene (c.[768G>T];[6079C>T]). Patient dermal fibroblasts were reprogrammed using episomal plasmids encoding OCT4, SOX2, KLF4, L-MYC, LIN28, mir302/367 microRNA and shRNA for P53. The clonal iPSC lines LEIi012-A and LEIi012-B were established. Both lines had a normal karyotype, displayed iPSC morphology, expressed pluripotency genes at similar levels to control iPSC and displayed trilineage differentiation potential during embryoid body differentiation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • ATP-Binding Cassette Transporters* / genetics
  • Cell Differentiation
  • Cell Line
  • Humans
  • Induced Pluripotent Stem Cells*
  • Kruppel-Like Factor 4
  • Mutation
  • Stargardt Disease* / genetics

Substances

  • ABCA4 protein, human
  • ATP-Binding Cassette Transporters
  • KLF4 protein, human
  • Kruppel-Like Factor 4