Generation of Leber congenital amaurosis, type 12 patient-specific induced pluripotent stem cell line (LVPEIi006-A), harboring a homozygous mutation in RD3
Summary
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. Copyright © 2024 LV Prasad Eye Institute, Hyderabad. Published by Elsevier B.V. All rights reserved.
| Authors | Mahato S, Maddileti S, Naik M, Kannabiran C, Jalali S, Mariappan I |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2024 Jun;77:103380 |
| PubMed | 38479331 |
| DOI | 10.1016/j.scr.2024.103380 |