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

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 distributorType 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)
Source: Stem Cell Research - Category: Stem Cells Source Type: research