Generation of Leber congenital amaurosis, type 12 patient-specific induced pluripotent stem cell line (LVPEIi006-A), harboring a homozygous mutation in RD3.
Stem Cell Res
; 77: 103380, 2024 Jun.
Article
in En
| MEDLINE
| ID: mdl-38479331
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Induced Pluripotent Stem Cells
/
Leber Congenital Amaurosis
/
Homozygote
Limits:
Humans
Language:
En
Journal:
Stem Cell Res
/
Stem cell research (Online)
Year:
2024
Document type:
Article
Affiliation country:
India
Country of publication:
Reino Unido