Human induced pluripotent stem cells derived from a patient with a mutation of FBN1c.1858C > T (p. Pro620Ser)


Mutation of FBN1 has certain relation with the incidence of cranial cervical artery dissection. Our study reprogrammed human induced pluripotent stem cells (iPSCs) from peripheral blood mononuclear cells (PBMC) of a patient with a mutation of FBN1c.1858C > T (p. Pro620Ser). The generated iPSCs express pluripotent cell markers with no mycoplasma contamination. Besides, it has normal karyotype and could differentiate into mesoderm, endoderm and neuronal layers. We also identified it has the same specific mutation with our patient. Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Lin A, Kang X, Xu Y, Feng X, Zhang S, Zhao H, Wu D, Han X
Journal Stem cell research
Publication Date 2022 May;61:102759
PubMed 35339882
DOI 10.1016/j.scr.2022.102759

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