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Article

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

Stem cell research - 1 Apr 2022

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

Abstract excerpt

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...

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Identifiers

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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