Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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 research - 1 Jun 2024

Zhu Xinyue, Tang Lu, Zhang Ting, Bai Xinyue, Chen Jieqiong, Zhang Lei, Gong Yuanyuan, Jiang Mei, Sun Xiaodong

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cell Line
Share to Induced Pluripotent Stem Cells

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Macular Degeneration

Share to Mutation

Share to Tissue Inhibitor of Metalloproteinase-3

Source

Identifiers

PMID: 38640637
DOI: 10.1016/j.scr.2024.103423

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

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.PMID 38640637Read ↗

In vitro stem cell modelling demonstrates a proof-of-concept for excess functional mutant TIMP3 as the cause of Sorsby fundus dystrophy.Semantic proximity Read ↗

A novel splice site mutation in the tissue inhibitor of the metalloproteinases-3 gene in Sorsby's fundus dystrophy with unusual clinical features.Semantic proximity Read ↗

Review: Mechanisms of TIMP-3 accumulation and pathogenesis in Sorsby fundus dystrophy.Semantic proximity Read ↗

Sorsby fundus dystrophy (SFD): A narrative review.Semantic proximity Read ↗

TIMP3 mutation in Sorsby's fundus dystrophy: molecular insights.Semantic proximity Read ↗

Sorsby Fundus Dystrophy: Novel Mutations, Novel Phenotypic Characteristics, and Treatment Outcomes.Semantic proximity Read ↗

Sorsby fundus dystrophy: Insights from the past and looking to the future.Semantic proximity Read ↗

Generation of induced pluripotent stem cell line (IPTi002-A) from an 87-year old sporadic Alzheimer's disease patient with APOE3 (ε3/ε3) genotype.Semantic proximity Read ↗

Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophySemantic proximity Read ↗

A novel mutation at the N-terminal domain of the TIMP3 gene in Sorsby fundus dystrophy.Semantic proximity Read ↗

Disease-Causing TIMP3 Variants and Deep Phenotyping of Two Czech Families with Sorsby Fundus Dystrophy Associated with Novel p.(Tyr152Cys) Mutation.Semantic proximity Read ↗

Derivation of three induced pluripotent stem cell lines under feeder-free culture conditions from peripheral blood mononuclear cells (PBMC) of Indian patients suffering from inherited retinal diseases carrying different mutations.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.