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)

Summary

The 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. Copyright © 2019 ational Center for Cardiovascular Diseases & Fuwai Hospital. Published by Elsevier B.V. All rights reserved.

Authors Ma B, Luo M, Yang H, Li T, Liu W, Xu F, Shu C, Chen G, Zhou Z
Journal Stem cell research
Publication Date 2019 Dec 18;42:101690
PubMed 31901832
DOI 10.1016/j.scr.2019.101690

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