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
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. Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Li T, Ma B, Yang H, Zhu G, Shu C, Luo M, Zhou Z |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2021 Oct;56:102543 |
| PubMed | 34592602 |
| DOI | 10.1016/j.scr.2021.102543 |