从一位马凡综合征患者的诱导多能干细胞（hiPSC）中生成 CRISPR/Cas9 校正的 hiPSC（NCCDFWi001-A-1），该患者的纤维连接蛋白 1（FBN1）基因中存在杂合 c.2613A>C 变异。
Generation of a CRISPR/Cas9-corrected-hiPSC (NCCDFWi001-A-1) from a Marfan syndrome patient hiPSC with a heterozygous c.2613A>C variant in the fibrillin 1 (FBN1) gene.
机构信息
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.
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.
出版信息
Stem Cell Res. 2021 Oct;56:102543. doi: 10.1016/j.scr.2021.102543. Epub 2021 Sep 20.
Patient-specific hiPSCs (NCCDFWi001-A) were generated from a patient with Marfan syndrome carrying a compound heterozygous variant (c.684_736 + 4del, p.Pro228fs and c.2613A>C, p.Leu871Phe). Here, we used CRISPR/ Cas9 to correct the FBN1 c.2613A>C variant, which generated an hiPSC line (NCCDFWi001-A-1) that maintained normal karyotype, pluripotency markers and demonstrated potential for trilineage differentiation.
患者特异性诱导多能干细胞（NCCDFWi001-A）是从一位马凡综合征的复合杂合变异（c.684_736+4del，p.Pro228fs 和 c.2613A>C，p.Leu871Phe）的患者中产生的。在这里，我们使用 CRISPR/Cas9 来纠正 FBN1 c.2613A>C 变异，产生了一个维持正常核型、多能性标记物并表现出三系分化潜能的 hiPSC 系（NCCDFWi001-A-1）。
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