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)

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 iPS...

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Veröffentlicht in:	Stem cell research 2020-01, Vol.42, p.101690-101690, Article 101690
Hauptverfasser:	Ma, Baihui, Luo, Mingyao, Yang, Hang, Li, Tianjiao, Liu, Weiwei, Xu, Faxiang, Shu, Chang, Chen, Guokai, Zhou, Zhou
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Animals Cell Line Female Fibrillin-1 - genetics Humans Induced Pluripotent Stem Cells - metabolism Marfan Syndrome - genetics Mutation
Online-Zugang:	Volltext
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Zusammenfassung:	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.
ISSN:	1873-5061 1876-7753
DOI:	10.1016/j.scr.2019.101690