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

Irene Vázquez-Domínguez; Michael Kwint; Hester Y Kroes; Silvia Albert; Luke O'Gorman; Christian Gilissen; Frans P M Cremers; Rob W J Collin; Susanne Roosing; Alejandro Garanto

doi:10.1016/j.scr.2022.102689

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

Stem Cell Res. 2022 Apr:60:102689. doi: 10.1016/j.scr.2022.102689. Epub 2022 Jan 29.

Affiliations

¹ Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
² Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.
³ Division Laboratories, Pharmacy and Biomedical Genetics, Clinical Genetics, University Medical Center of Utrecht, Utrecht, the Netherlands.
⁴ Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Radboud Institute of Molecular Life Sciences (RIMLS), Radboud University Medical Center, Nijmegen, the Netherlands.
⁵ Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Pediatrics, Department of Human Genetics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands; Radboud Institute of Molecular Life Sciences (RIMLS), Radboud University Medical Center, Nijmegen, the Netherlands. Electronic address: alex.garanto@radboudumc.nl.

PMID: 35121194
DOI: 10.1016/j.scr.2022.102689

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cell Line
Humans
Induced Pluripotent Stem Cells* / metabolism
Leber Congenital Amaurosis* / genetics
Leber Congenital Amaurosis* / metabolism
Leukocytes, Mononuclear / metabolism
Mutation
cis-trans-Isomerases / genetics

Substances

cis-trans-Isomerases