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).

Abstract

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.

• Authors: Baihui Ma, Mingyao Luo, Hang Yang, Tianjiao Li, Weiwei Liu, Faxiang Xu, Chang Shu, Guokai Chen, Zhou Zhou
• Journal: Stem cell research (Stem Cell Res) Vol. 42 Pg. 101690 (01 2020) ISSN: 1876-7753 [Electronic] England
• PMID: 31901832 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2019 ational Center for Cardiovascular Diseases & Fuwai Hospital. Published by Elsevier B.V. All rights reserved.

Chemical References

• FBN1 protein, human
• Fibrillin-1

Topics

• Adult
• Animals
• Cell Line
• Female
• Fibrillin-1 (genetics)
• Humans
• Induced Pluripotent Stem Cells (metabolism)
• Marfan Syndrome (genetics)
• Mutation