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 iPSC lines from three Stargardt patients carrying bi-allelic ABCA4 variants.

Stem cell research - 1 Sept 2023

Karjosukarso Dyah W, Bukkems Femke, Duijkers Lonneke, Leijsten Nico, Hoyng Carel B, Collin Rob W J

Abstract excerpt

Stargardt disease, a progressive retinal disorder, is associated with bi-allelic variants in ABCA4, a protein that is expressed in the retina. Induced pluripotent stem cell lines (RMCGENi005-A, SCTCi018-A, SCTCi017-A) were generated by lentivirus reprogramming of fibroblasts derived from Stargardt patients carrying different bi-allelic ABCA4 variants. All the generated lines showed pluripotent characteristics and...

Read the complete abstract on PubMed

Topics

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

Share to ATP-Binding Cassette Transporters
Share to Chromosome Aberrations

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Induced Pluripotent Stem Cells

Share to Mutation

Share to Retina

Share to Stargardt Disease

Source

Identifiers

PMID: 37441824
DOI: 10.1016/j.scr.2023.103164

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 iPSC lines from three Stargardt patients carrying bi-allelic ABCA4 variants.PMID 37441824Read ↗

Generation of three isogenic control lines from patient-derived iPSCs carrying bi-allelic ABCA4 variants underlying Stargardt disease.Semantic proximity Read ↗

Generation of an iPSC line (RMCGENi020-A) from a patient with Stargardt disease harboring the recurrent intronic ABCA4 variant c.4253+43G>A.Semantic proximity Read ↗

Generation of an induced pluripotent stem cell line from a patient with Stargardt disease caused by biallelic c.[5461-10T>C;5603A>T];[6077T>C] mutations in the ABCA4 gene.Semantic proximity Read ↗

Generation of two induced pluripotent stem cell lines from a patient with Stargardt disease caused by compound heterozygous mutations in the ABCA4 gene.Semantic proximity Read ↗

Generation of two induced pluripotent stem cell lines from a patient with Stargardt Macular Dystrophy caused by the c.768G>T and c.6079C>T mutations in ABCA4.Semantic proximity Read ↗

Generation of two induced pluripotent stem cell lines (LVPEIi007-B, LVPEIi008-B) from patients harboring homozygous mutation in ABCA4 (c.6088C>T) using non-integrative Sendai virus-based approach.Semantic proximity Read ↗

Induced pluripotent stem cell line BIOi003-A from a patient with ABCA4-associated retinal dystrophy carrying compound heterozygous c.(1222C>T;2919-884G>T) variants in ABCA4.Semantic proximity Read ↗

High-efficiency base editing for Stargardt disease in mice, non-human primates, and human retina tissueSemantic proximity Read ↗

Emerging Therapeutic Approaches and Genetic Insights in Stargardt Disease: A Comprehensive Review.Semantic proximity Read ↗

Expression of the retina-specific flippase, ABCA4, in epidermal keratinocytesSemantic proximity Read ↗

Unravelling genotype-phenotype correlations in Stargardt disease using patient-derived retinal organoidsSemantic proximity Read ↗

ABCA4-mutant human retinal organoids sequencing reveals organoids application in inherited retinal diseases.Semantic proximity Read ↗

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