Generation of Leber congenital amaurosis, type 12 patient-specific induced pluripotent stem cell line (LVPEIi006-A), harboring a homozygous mutation in RD3

Authors

Sudipta Mahato, L.V. Prasad Eye Institute India
Savitri Maddileti, L.V. Prasad Eye Institute India
Milind Naik, L.V. Prasad Eye Institute India
Chitra Kannabiran, L.V. Prasad Eye Institute India

Document Type

Article

Publication Title

Stem Cell Research

Abstract

Leber congenital amaurosis (LCA) is a congenital, early onset, autosomal recessive inherited retinal disease (IRD). This report describes an LCA12 patient-specific iPSC line (LVPEIi006-A), generated by the reprogramming of dermal fibroblasts using integration-free episomal plasmids.This disease-specific iPSC model carries a homozygous point mutation in RD3, within the donor splice site at the end of exon 2 (c.296 + 1G > A). The stable line at passage 15 has displayed a normal colony morphology, expressed multiple stemness and pluripotency markers, lost all transgenes, differentiated into cell types of all three germ layers, and maintained a normal karyotype.

DOI

10.1016/j.scr.2024.103380

Publication Date

6-1-2024

Recommended Citation

Mahato, Sudipta; Maddileti, Savitri; Naik, Milind; and Kannabiran, Chitra, "Generation of Leber congenital amaurosis, type 12 patient-specific induced pluripotent stem cell line (LVPEIi006-A), harboring a homozygous mutation in RD3" (2024). Open Access archive. 6545.
https://impressions.manipal.edu/open-access-archive/6545