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
Summary
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. Copyright © 2024 Hyderabad Eye Research Foundation, LV Prasad Eye Institute. Published by Elsevier B.V. All rights reserved.
| Authors | Maddileti S, Mahato S, Agrawal T, Pravin Dave V, Naik M, Javed Ali M, Kannabiran C, Jalali S, Jayandharan GR, Mariappan I |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Apr 16;77:103413 |
| PubMed | 38631180 |
| DOI | 10.1016/j.scr.2024.103413 |