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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.

Stem cell research - 1 Mar 2026

Hall Franklyn D, Miller Christine, Gerecht Sharon, Boheler Kenneth R

Abstract excerpt

Marfan Syndrome, a heritable connective tissue disorder caused by mutations within the fibrillin-1 (FBN1) gene, can have deleterious effects on heart and aorta, eyes, the skeletal system and bone. FBN1 mutations that result in increased aortic vulnerability to rupture are associated with high mortality rates. Here, we describe an induced pluripotent stem cell line (JHUi006-A) generated from patient-derived human...

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Identifiers

PMID: 41632995
DOI: 10.1016/j.scr.2026.103915

Genes

FBN1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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Research trail→

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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.PMID 41632995Read ↗

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 ↗

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 Marfan syndrome-specific induced pluripotent stem cells harboring FBN1 mutations.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 ↗

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

A Marfan syndrome human induced pluripotent stem cell line with a heterozygous FBN1 c.4082G>A mutation, ISMMSi002-B, for disease modeling.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 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 ↗

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 a human induced pluripotent stem cell line (NCCDFWi001-A) from a Marfan syndrome patient carrying two FBN1 variants (c.2613A > C and c.684_736 + 4del).Semantic proximity Read ↗

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