IISHDOi003-A

Registration Summary:

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General

iPSC Line
hPSCreg name	IISHDOi003-A
Cite as:	IISHDOi003-A (RRID:CVCL_QX87)
iPSC line type	Human induced pluripotent stem cell (hiPSC)
Similar iPSC lines	No similar lines found.
Last update	27th July 2017
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Provider
Generator	Instituto de Investigación Sanitaria Hospital 12 de Octubre, i+12 (IISHDO)
External iPSC Databases
Cellosaurus	CVCL_QX87
Wikidata	Q54897447
General iPSC Information
Publications	Zurita-Díaz F et al. Establishment of a human DOA 'plus' iPSC line, IISHDOi003-A, with the mutation in the OPA1 gene: c.1635C>A; p.Ser545Arg. Stem cell research. 2017 Oct;24:81-84. Del Dotto V et al. Dominant Optic Atrophy (DOA): Modeling the Kaleidoscopic Roles of OPA1 in Mitochondrial Homeostasis. Frontiers in neurology. 2021;12:681326. García-López M et al. Hereditary Optic Neuropathies: Induced Pluripotent Stem Cell-Based 2D/3D Approaches. Genes. 2021 Jan 18;12(1). McKnight CL et al. Modelling Mitochondrial Disease in Human Pluripotent Stem Cells: What Have We Learned?. International journal of molecular sciences. 2021 Jul 20;22(14). Kang EY et al. Role of Oxidative Stress in Ocular Diseases Associated with Retinal Ganglion Cells Degeneration. Antioxidants (Basel, Switzerland). 2021 Dec 5;10(12). Harvey JP et al. Induced Pluripotent Stem Cells for Inherited Optic Neuropathies-Disease Modeling and Therapeutic Development. Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society. 2022 Mar 1;42(1):35-44. Sladen Paul E et al. Modelling autosomal dominant optic atrophy associated with OPA1 variants in iPSC-derived retinal ganglion cells. Human Molecular Genetics. 2022-10-10. Pohl Katherine A. et al. Establishing induced pluripotent stem cell lines from two dominant optic atrophy patients with distinct OPA1 mutations and clinical pathologies. Frontiers in Genetics. 2023-09-04. Ladero Miguel et al. Hereditary Optic Neuropathies: A Systematic Review on the Interplay between Biomaterials and Induced Pluripotent Stem Cells. Bioengineering. 2024-01-03.

iPSC Derivation

General