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)

Publication date: Available online 18 December 2019Source: Stem Cell ResearchAuthor(s): Baihui Ma, Mingyao Luo, Hang Yang, Tianjiao Li, Weiwei Liu, Faxiang Xu, Chang Shu, Guokai Chen, Zhou ZhouAbstractThe 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.
Source: Stem Cell Research - Category: Stem Cells Source Type: research