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

Stem Cell Research (Apr 2022)

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

Affiliations

Irene Vázquez-Domínguez: 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
Michael Kwint: Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands
Hester Y Kroes: Division Laboratories, Pharmacy and Biomedical Genetics, Clinical Genetics, University Medical Center of Utrecht, Utrecht, the Netherlands
Silvia Albert: Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands
Luke O'Gorman: Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands
Christian Gilissen: 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
Frans P.M. Cremers: 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
Rob W.J. Collin: 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
Susanne Roosing: 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
Alejandro Garanto: 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; Corresponding author.

Journal volume & issue: Vol. 60
p. 102689

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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