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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).
Stem Cell Research ( IF 1.2 ) Pub Date : 2019-12-18 , DOI: 10.1016/j.scr.2019.101690 Baihui Ma 1 , Mingyao Luo 2 , Hang Yang 1 , Tianjiao Li 1 , Weiwei Liu 3 , Faxiang Xu 3 , Chang Shu 2 , Guokai Chen 3 , Zhou Zhou 1
中文翻译：
从带有两个FBN1变体（c.2613A> C和c.684_736 + 4del）的马凡氏综合症患者中产生人诱导的多能干细胞系（NCCDFWi001-A）。
更新日期：2019-12-18
Stem Cell Research ( IF 1.2 ) Pub Date : 2019-12-18 , DOI: 10.1016/j.scr.2019.101690 Baihui Ma 1 , Mingyao Luo 2 , Hang Yang 1 , Tianjiao Li 1 , Weiwei Liu 3 , Faxiang Xu 3 , Chang Shu 2 , Guokai Chen 3 , Zhou Zhou 1
Affiliation
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.
中文翻译：
从带有两个FBN1变体（c.2613A> C和c.684_736 + 4del）的马凡氏综合症患者中产生人诱导的多能干细胞系（NCCDFWi001-A）。
人诱导的多能干细胞系NCCDFWi001-A来自一名26岁女性马凡氏综合症患者的外周血单核细胞（PBMC），该患者携带两种复合杂合变体FBN1c.2613A> C（p.Leu871Phe）和c。 684_736 + 4del。建立的患者来源的iPSC显示多能干细胞标志物的表达，并具有分化为所有三个胚层的能力，并具有正常的核型。
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