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

Stem cell research - 1 Jun 2024

Mahato Sudipta, Maddileti Savitri, Naik Milind, Kannabiran Chitra, Jalali Subhadra, Mariappan Indumathi

Abstract excerpt

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...

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Cell Differentiation
Cell Line
Homozygote
Induced Pluripotent Stem Cells
Leber Congenital Amaurosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 38479331
DOI: 10.1016/j.scr.2024.103380

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Generation of Leber congenital amaurosis, type 12 patient-specific induced pluripotent stem cell line (LVPEIi006-A), harboring a homozygous mutation in RD3.PMID 38479331Read ↗

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