Article
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.
Stem cell research - 1 Jun 2024
Maddileti Savitri, Mahato Sudipta, Agrawal Trupti, Pravin Dave Vivek, Naik Milind, Javed Ali Mohammad, Kannabiran Chitra, Jalali Subhadra, Jayandharan Giridhara R, Mariappan Indumathi
Abstract excerpt
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...
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