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

oleh: Savitri Maddileti, Sudipta Mahato, Trupti Agrawal, Vivek Pravin Dave, Milind Naik, Mohammad Javed Ali, Chitra Kannabiran, Subhadra Jalali, Giridhara R. Jayandharan, Indumathi Mariappan

Format: Article
Diterbitkan: Elsevier 2024-06-01

Deskripsi

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.