Generation of two induced pluripotent stem cell lines from a patient with Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene

Stem Cell Res. 2021 Jul;54:102448. doi: 10.1016/j.scr.2021.102448. Epub 2021 Jun 24.

Abstract

Stargardt disease (STGD1) is the most common inherited retinal dystrophy and ABCA4 c.546--10 T>C is the most commonly reported splice mutation. Here, we generated and characterized two induced pluripotent stem cell (iPSC) lines from a STGD1 patient with compound heterozygous mutations in ABCA4 (c.[5461-10 T > C;5603A > T];[4163 T > C;455G > A]). Episomal vectors containing OCT4, SOX2, KLF4, L-MYC, LIN28 and mp53DD were employed to conduct the reprogramming of patient-derived fibroblasts. Both lines had a normal karyotype, displayed iPSC morphology, expressed pluripotency markers and showed trilineage differentiation potential. These lines can provide a powerful platform for further investigating the pathophysiological consequences of mutations in ABCA4.

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

Substances

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