Generation of two induced pluripotent stem cell lines (LVPEIi004-A and LVPEIi005-A) from probands with Leber Congenital Amaurosis 2 (LCA2) and harboring mutations in RPE65.

Autor:	Maddileti S; Centre for Ocular Regeneration, Prof. Brien Holden Eye Research Centre, Hyderabad Eye Research Foundation, L.V. Prasad Eye Institute, Hyderabad, Telangana, India., Mahato S; Centre for Ocular Regeneration, Prof. Brien Holden Eye Research Centre, Hyderabad Eye Research Foundation, L.V. Prasad Eye Institute, Hyderabad, Telangana, India; Manipal Academy of Higher Education, Manipal, Karnataka, India., Agrawal T; Centre for Ocular Regeneration, Prof. Brien Holden Eye Research Centre, Hyderabad Eye Research Foundation, L.V. Prasad Eye Institute, Hyderabad, Telangana, India; Manipal Academy of Higher Education, Manipal, Karnataka, India., Pravin Dave V; Srimati Kanuri Santhamma Centre for Vitreo Retinal Diseases, Anant Bajaj Retina Institute, L.V. Prasad Eye Institute, Hyderabad, Telangana, India., Naik M; Department of Ophthalmic Plastic Surgery & Facial Aesthetics, L.V. Prasad Eye Institute, Hyderabad, Telangana, India., Javed Ali M; Department of Ophthalmic Plastic Surgery & Facial Aesthetics, L.V. Prasad Eye Institute, Hyderabad, Telangana, India., Kannabiran C; Kallam Anji Reddy Molecular Genetics Laboratory, Prof. Brien Holden Eye Research Centre, Hyderabad Eye Research Foundation, LV Prasad Eye Institute, Hyderabad, Telangana, India., Jalali S; Srimati Kanuri Santhamma Centre for Vitreo Retinal Diseases, Anant Bajaj Retina Institute, L.V. Prasad Eye Institute, Hyderabad, Telangana, India., Jayandharan GR; Laurus Center for Gene Therapy, Department of Biological Sciences and Bioengineering and Mehta Family Centre for Engineering in Medicine and Gangwal School of Medical Sciences and Technology, Indian Institute of Technology Kanpur, UP, India., Mariappan I; Centre for Ocular Regeneration, Prof. Brien Holden Eye Research Centre, Hyderabad Eye Research Foundation, L.V. Prasad Eye Institute, Hyderabad, Telangana, India. Electronic address: indumathi@lvpei.org.
Jazyk:	angličtina
Zdroj:	Stem cell research [Stem Cell Res] 2024 Jun; Vol. 77, pp. 103413. Date of Electronic Publication: 2024 Apr 16.
DOI:	10.1016/j.scr.2024.103413
Abstrakt:	Leber Congenital Amaurosis 2 is an early onset retinal dystrophy that occurs due to mutation in RPE65 gene. Here, we report the generation of two patient specific induced pluripotent stem cell lines harboring nonsense mutations in exon 7 (c.646A > T) and exon 9 (c.992G > A) of RPE65 gene, respectively, which leads to premature translational termination and formation of defective protein. These lines were generated by the reprogramming of human dermal fibroblast cells using integration-free, episomal constructs expressing stemness genes. The stable lines maintained a normal karyotype, expressed the key stemness factors, underwent trilineage differentiation, and maintained their genetic identity and genomic integrity. Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. (Copyright © 2024 Hyderabad Eye Research Foundation, LV Prasad Eye Institute. Published by Elsevier B.V. All rights reserved.)
Databáze:	MEDLINE
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