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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)
Ma,Baihui1; Luo,Mingyao2; Yang,Hang1; Li,Tianjiao1; Liu,Weiwei3; Xu,Faxiang3; Shu,Chang2; Chen,Guokai3; Zhou,Zhou1
2020-01
Source PublicationStem Cell Research
ISSN1873-5061
Volume42
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.

DOI10.1016/j.scr.2019.101690
URLView the original
Indexed BySCIE
Language英語English
WOS Research AreaCell Biology ; Biotechnology & Applied Microbiology
WOS SubjectCell & Tissue Engineering ; Biotechnology & Applied Microbiology ; Cell Biology
WOS IDWOS:000522733200023
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Cited Times [WOS]:1   [WOS Record]     [Related Records in WOS]
Document TypeJournal article
CollectionFaculty of Health Sciences
Corresponding AuthorChen,Guokai; Zhou,Zhou
Affiliation1.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
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
Corresponding Author AffilicationFaculty of Health Sciences
Recommended Citation
GB/T 7714
Ma,Baihui,Luo,Mingyao,Yang,Hang,et al. 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)[J]. Stem Cell Research,2020,42.
APA Ma,Baihui,Luo,Mingyao,Yang,Hang,Li,Tianjiao,Liu,Weiwei,Xu,Faxiang,Shu,Chang,Chen,Guokai,&Zhou,Zhou.(2020).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).Stem Cell Research,42.
MLA Ma,Baihui,et al."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)".Stem Cell Research 42(2020).
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