Generation and characterization of the hiPSC line CSSi023-A (16154) from a patient with ADOA caused by an OPA1 variant
Summary
Autosomal Dominant Optic Atrophy plus syndrome (ADOA, OMIM #125250) is a mitochondrial optic neuropathy characterized by progressive degeneration of retinal ganglion cells (RGCs), leading to worsening visual impairment. The disease is caused by pathogenic variants in the Optic Atrophy 1 (OPA1) gene, a member of the guanosine triphosphatase (GTPase) family that plays a central role in mitochondrial fusion and fission, mitophagy regulation, and mitochondrial DNA (mtDNA) maintenance. To model this disorder, we generated and characterized a human induced pluripotent stem cell (hiPSC) line from primary fibroblasts obtained from a patient affected by ADOA syndrome. Copyright © 2026 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Giada Giovenale AM, Ferrone I, Tomaselli S, Turco EM, Mazzoni M, Torres B, Zanfardino P, Vulcano E, Ferrari D, Damiani D, Santorelli FM, Luca A, Pennuto M, Vescovi AL, Petruzzella V, Rosati JD |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2026 Aug;94:104022 |
| PubMed | 42269329 |
| DOI | 10.1016/j.scr.2026.104022 |