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

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

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 (NCCDFWi...

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Bibliographic Details
Main Authors: Tianjiao Li, Baihui Ma, Hang Yang, Guoyan Zhu, Chang Shu, Mingyao Luo, Zhou Zhou
Format: Article
Language:English
Published: Elsevier 2021-10-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506121003901
Description
Summary: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.
ISSN:1873-5061

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