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 | 2020 Jan;42:101690 |
| PubMed | 31901832 |
| DOI | 10.1016/j.scr.2019.101690 |