Generation of a patient-derived induced pluripotent cell line (SCTCi016-A) carrying a homozygous variant in RPE65


Leber congenital amaurosis (LCA) can be caused by mutations in more than 20 different genes. One of these, RPE65, encodes a protein essential for the visual cycle that is expressed in retinal pigment epithelium cells. In this work, we describe the generation and characterization of the human iPSC line SCTCi16-A. This hiPSC line was generated from peripheral blood mononuclear cells (PBMCs) from a patient affected with LCA caused by the homozygous c.11+5G>A variant in the RPE65 gene. Reprograming was conducted using episomal vectors containing OCT3/4, SOX2, KLF4, L-MYC, and LIN28. Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Vázquez-Domínguez I, Kwint M, Kroes HY, Albert S, O'Gorman L, Gilissen C, Cremers FPM, Collin RWJ, Roosing S, Garanto A
Journal Stem cell research
Publication Date 2022 Apr;60:102689
PubMed 35121194
DOI 10.1016/j.scr.2022.102689

Research Projects

Cell Lines