GibcoTM Episomal hiPSCs line #A18945 was CRISPR-Cas9-edited by the manufacturer (Thermo Fisher Scientific) to carry the ABCA4 c.5461-10 T>C variant on both alleles. The wild-type and mutant iPSCs were cultured on Matrigel hESC-Qualified Matrix coating (Corning, Corning, NY, USA) with mTeSR1 medium (STEMCELL Technologies, Vancouver, Canada) and 1 × mTeSR1 Supplement (STEMCELL Technologies). Patient-derived homozygous c.5461-10T>C iPSCs were generated previously upon approval by the institutional review board, following the tenets of the Declaration of Helsinki.7 (link) The iPSCs were differentiated in ROs following the protocol described by Hallam et al.35 (link) or Hau et al.57 (link)
Kaltak M., de Bruijn P., Piccolo D., Lee S.E., Dulla K., Hoogenboezem T., Beumer W., Webster A.R., Collin R.W., Cheetham M.E., Platenburg G, & Swildens J. (2023). Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant ABCA4 c.5461-10T>C. Molecular Therapy. Nucleic Acids, 31, 674-688.
Other organizations :
Radboud University Medical Center, University Medical Center, Radboud University Nijmegen, Maastricht University, University College London, Moorfields Eye Hospital NHS Foundation Trust
CRISPR-Cas9 editing of ABCA4 c.5461-10 T>C variant on both alleles
dependent variables
Phenotypic changes in retinal organoids (ROs) derived from wild-type and mutant iPSCs
control variables
Culture of iPSCs on Matrigel hESC-Qualified Matrix coating with mTeSR1 medium and 1 × mTeSR1 Supplement
Differentiation of iPSCs into retinal organoids following published protocols
controls
Wild-type iPSCs (without the ABCA4 c.5461-10 T>C variant)
Patient-derived homozygous c.5461-10T>C iPSCs
Annotations
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