Generation of an induced pluripotent stem cell line (SJTUGHi003-A) from a patient with Sorsby fundus dystrophy carrying c.484G>A mutation in TIMP3 gene.
Stem Cell Res
; 77: 103423, 2024 Jun.
Article
in En
| MEDLINE
| ID: mdl-38640637
ABSTRACT
Sorsby fundus dystrophy (SFD) is a rare autosomal dominant disorder with macular dystrophy and severe visual loss. Mutations in TIMP3 gene has been related to SFD with mechanisms unclear. We have successfully reprogrammed the peripheral blood mononuclear cells (PBMCs) from an SFD patient carrying c.484G>A mutation in TIMP3 gene to induced pluripotent stem cells (iPSCs) and characterized their pluripotency and genetic stability. This line may serve as a useful tool to explore the role of TIMP3 in SFD pathogenesis.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Tissue Inhibitor of Metalloproteinase-3
/
Induced Pluripotent Stem Cells
/
Mutation
Limits:
Female
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Humans
/
Male
Language:
En
Journal:
Stem Cell Res
Year:
2024
Document type:
Article
Country of publication:
Reino Unido