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Stem Cell Res. 2019 Dec 18;42:101690. doi: 10.1016/j.scr.2019.101690. [Epub ahead of print]

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).

Author information

1
State Key Laboratory of Cardiovascular Disease, Beijing Key Laboratory for Molecular Diagnostics of Cardiovascular Diseases, Diagnostic Laboratory Service, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100037 China.
2
State Key Laboratory of Cardiovascular Disease, Center of Vascular Surgery, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100037 China.
3
Centre of Reproduction, Development and Aging, Faculty of Health Sciences, University of Macau, Macau, China.
4
Centre of Reproduction, Development and Aging, Faculty of Health Sciences, University of Macau, Macau, China. Electronic address: guokaichen@um.edu.mo.
5
State Key Laboratory of Cardiovascular Disease, Beijing Key Laboratory for Molecular Diagnostics of Cardiovascular Diseases, Diagnostic Laboratory Service, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100037 China. Electronic address: fwcomd@126.com.

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.

PMID:
31901832
DOI:
10.1016/j.scr.2019.101690
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