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Generation of a human iPSC line from a patient with Marfan syndrome caused by mutation in FBN1

2019; Elsevier BV; Volume: 36; Linguagem: Inglês

10.1016/j.scr.2019.101414

1876-7753

Xiaowei Li, Tao Dong, Yanan Li, Fujian Wu, Feng Lan,

Aortic Disease and Treatment Approaches

Marfan syndrome (MFS) is a heritable connective tissue disease caused by mutations in FBN1, encoding the extracellular matrix protein fibrillin-1. 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 distributor[email protected]Type of cell lineiPSCOriginHumanAdditional origin infoAge: 25Sex: maleEthnicity: Han nationalityCell sourcePatient derived fibroblastsClonalityClonalMethod of reprogrammingSendai virus. Oct4, Sox2, cMyc, Klf4Genetic modificationNOType of modificationN/AAssociated diseaseMarfan syndrome (aortic root aneurysm)Gene/locusGene: FBN1Locus: 15q21.1Mutation: heterozygote c.6388G > A (p.E2130K)Method of modificationN/AName of transgene or resistanceN/AInducible/constitutive systemN/AData archived/stock date02/2018Cell line repository/bankN/AEthical approvalEthics Committee of Anzhen Hospital, Capital Medical University(#134/18)