1. Generation of a patient-derived induced pluripotent cell line (SCTCi016-A) carrying a homozygous variant in RPE65.
- Author
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Vázquez-Domínguez I, Kwint M, Kroes HY, Albert S, O'Gorman L, Gilissen C, Cremers FPM, Collin RWJ, Roosing S, and Garanto A
- Subjects
- Cell Line, Humans, Leukocytes, Mononuclear metabolism, Mutation, cis-trans-Isomerases genetics, Induced Pluripotent Stem Cells metabolism, Leber Congenital Amaurosis genetics, Leber Congenital Amaurosis metabolism
- Abstract
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.)
- Published
- 2022
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