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Article

Generation of induced pluripotent stem cell lines from three Marfan syndrome patients carrying mutations in the fibrillin-1 gene.

Stem cell research - 1 Sept 2026

Hauger Philipp C, Kirby Tyler J, Groenink Maarten, Manjikian Herak, de Waard Vivian, Hordijk Peter L

Abstract excerpt

Marfan syndrome is a heritable connective tissue disorder associated with cardiovascular complications, including progressive aortic aneurysm and dissection, caused by mutations in the fibrillin-1 (FBN1) gene. We generated human induced pluripotent stem cells (hiPSCs) from skin fibroblasts of 3 patients carrying FBN1 mutations (FBN1 c.6554 T > C, FBN1 c.4425-4426delinsC, FBN1 c.6806 T > C) using an episomal...

Read the complete abstract on PubMed

Topics

Humans
Induced Pluripotent Stem Cells
Marfan Syndrome
Fibrillin-1
Mutation
Adipokines

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Cell Differentiation

Cell Line

Female

Male

Fibroblasts

Adult

Source

Identifiers

PMID: 42263533
DOI: 10.1016/j.scr.2026.104029

Genes

FBN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Generation of induced pluripotent stem cell lines from three Marfan syndrome patients carrying mutations in the fibrillin-1 gene.PMID 42263533Read ↗

Generation of Marfan syndrome-specific induced pluripotent stem cells harboring FBN1 mutations.Semantic proximity Read ↗

Generation of an induced pluripotent stem cell line, JHUi005-A, from a Marfan Syndrome patient harboring a pathogenic c.3338-2A>C intronic splicing variantSemantic proximity Read ↗

Generation of an integration-free induced pluripotent stem cell line, FJMAi001-A, from a Marfan syndrome patient with a heterozygous mutation c.2777G > A (p.Cys926Tyr) in FBN1.Semantic proximity Read ↗

Generation of an induced pluripotent stem cell line, JHUi006-A, from a Marfan Syndrome patient harboring a pathogenic c.5225-2A > C intronic splicing variant.Semantic proximity Read ↗

Generation of two induced pluripotent stem cell lines from Marfan syndrome patients carrying FBN1 mutations.Semantic proximity Read ↗

Generation of an induced pluripotent stem cell line from a patient carrying FBN1/c.6734 G > A mutation.Semantic proximity Read ↗

Generation of an induced pluripotent stem cell (iPSC) line of a Marfan syndrome patient with a pathogenic FBN1 c.5372G > A (p.Cys1791Tyr) variant.Semantic proximity Read ↗

Generation of genetically modified human induced pluripotent stem cell lines harboring haploin sufficient or dominant negative variants in the FBN1 gene.Semantic proximity Read ↗

Generation of two human induced pluripotent stem cell (hiPSC) lines derived from unrelated Marfan Syndrome patients.Semantic proximity Read ↗

Reprogramming of a human induced pluripotent stem cell line from a Marfan syndrome patient harboring a heterozygous mutation of c.2939G > A in FBN1 gene.Semantic proximity Read ↗

A generated induced pluripotent stem cell (iPSC) line (CMGANTi005-A) of a Marfan syndrome patient with an FBN1 c.7754T > C (p.Ile2585Thr) variation.Semantic proximity Read ↗

Generation of human induced pluripotent stem cell line UGENTi001-A from a patient with Marfan syndrome carrying a heterozygous c.7754 T > C variant in FBN1 and the isogenic control UGENT001-A-1 using CRISPR/Cas9 editing.Semantic proximity Read ↗

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