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)

Publication date: Available online 18 December 2019Source: Stem Cell ResearchAuthor(s): Baihui Ma, Mingyao Luo, Hang Yang, Tianjiao Li, Weiwei Liu, Faxiang Xu, Chang Shu, Guokai Chen, Zhou ZhouAbstractThe human induced pluripotent stem cell line NCCDFWi001-A was derived from peripheral blood mononuclear cells (PBMC) of a 26-year-old female Marfan syndrome patient carrying two compound heterozygous variants FBN1c.2613A>C, (p.Leu871Phe) and c.684_736+4del. The established patient-derived iPSC showed expression of pluripotent stem cell markers and had the ability to differentiate into all of the three germ layers and possessed a normal karyotype.
Source: Stem Cell Research - Category: Stem Cells Source Type: research

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In this study, we generated human induced pluripotent stem cells (iPSCs) from dermal fibroblasts of an MFS patient with the p. E2130K (c. 6388G > A) mutation. The generated hiPSC line had a normal karyotype, showed robust expression of pluripotency markers and was able to differentiate into all three germ layers in vivo. This cell line can provide a platform for understanding the pathogenic mechanisms of MFS related to FBN1 mutations.Resource table.Unique stem cell identifierCMUi001-AAlternative name(s) of stem cell lineFBN1-E2130K-iPSCInstitutionAnzhen Hospital, Capital Medical UniversityContact information of dist...
Source: Stem Cell Research - Category: Stem Cells Source Type: research
Marfan syndrome; A connective tissue disease at the crossroads of mechanotransduction, TGFβ signaling and cell stemness. Matrix Biol. 2017 Aug 04;: Authors: Ramirez F, Caescu C, Wondimu E, Galatioto J Abstract Mutations in fibrillin-1 cause Marfan syndrome (MFS), the most common heritable disorder of connective tissue. Fibrillin-1 assemblies (microfibrils and elastic fibers) represent a unique dual-function component of the architectural matrix. The first role is structural for they endow tissues with tensile strength and elasticity, transmit forces across them and demarcate functionally discrete...
Source: Matrix Biology - Category: Molecular Biology Authors: Tags: Matrix Biol Source Type: research
Publication date: August 2017 Source:Stem Cell Research, Volume 23 Author(s): Sandra Klein, Jill L. Dvornik, Akshitha R. Yarrabothula, Christoph Schaniel Fibroblasts of a 28-year-old female with Marfan syndrome (MFS) due to a heterozygous FBN1 c.4082G>A mutation were reprogrammed using the Sendai virus delivery method. The established human induced pluripotent stem cell (hiPSC) line named ISMMSi002-B expresses pluripotency markers, has a normal karyotype, carries the specific FBN1 mutation and is able to differentiate into three germ layers in vitro. ISMMSi002-B has utility in studying MFS pathogenesis, including skele...
Source: Stem Cell Research - Category: Stem Cells Source Type: research
We examined the role of fibrillin-1 in adipogenesis. In inbred mouse strains we found significant variation in the level of expression in the Fbn1 gene that correlated with variation in several measures of body fat, suggesting that mouse fibrillin-1 is associated with the level of fat tissue. Furthermore, we found that FBN1 mRNA was up-regulated in the adipose tissue of obese women compared to non-obese, and associated with an increase in adipocyte size. We used human mesenchymal stem cells differentiated in culture to adipocytes to show that fibrillin-1 declines after the initiation of differentiation. Gene expression res...
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
Condition:   Marfan's SyndromeIntervention:   Other: Skin biopsySponsor:   National Heart Centre SingaporeRecruiting - verified January 2016
Source: - Category: Research Source Type: clinical trials
Publication date: November 2015 Source:Stem Cell Research, Volume 15, Issue 3 Author(s): Qingqing Yang, Xiaoying Zhou, Hao Zhou, Long Li, Juan Du, Guangxiu Lu, Ge Lin, Qi Ouyang
Source: Stem Cell Research - Category: Stem Cells Source Type: research
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