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 Marfan patient specific iPSCs (ICSSUi001-A) carrying a novel heterozygous mutation in FBN1 gene.

Stem cell research - 1 Apr 2022

Yu You, Shen Han, Zhu Jingze, Cao Xiangyu, Li Qian, Shao Lianbo, Shen Zhenya

Abstract excerpt

Marfan syndrome (MFS) is an autosomal genetic disorder caused by mutation in FBN1 gene, encoding the extracellular matrix protein fibrillin-1. Here, a MFS patient specific iPSC carrying a novel heterozygous mutation (c.7897 T > G) in FBN1 gene was generated. This iPSC line exhibited normal morphology and karyotype, and could differentiate into three germ layers in vivo and in vitro. Thus, the established iPSC...

Read the complete abstract on PubMed

Topics

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

Share to Fibrillin-1
Share to Heterozygote
Share to Induced Pluripotent Stem Cells

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Marfan Syndrome

Share to Mutation

Source

Identifiers

PMID: 35231796
DOI: 10.1016/j.scr.2022.102720

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Generation of Marfan patient specific iPSCs (ICSSUi001-A) carrying a novel heterozygous mutation in FBN1 gene.PMID 35231796Read ↗

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

Generation of a human iPSC line QDMHi001-A from a patient with Marfan syndrome carrying a heterozygous c.6772 T > C variant in FBN1.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 an induced pluripotent stem cell line from a patient carrying FBN1/c.6734 G > A mutation.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 ↗

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 ↗

Recapitulating and Correcting Marfan Syndrome in a Cellular Model.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 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 two human induced pluripotent stem cell (hiPSC) lines derived from unrelated Marfan Syndrome patients.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 ↗

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