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

Tianjiao Li; Baihui Ma; Hang Yang; Guoyan Zhu; Chang Shu; Mingyao Luo; Zhou Zhou

Stem Cell Research (Oct 2021)

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

Tianjiao Li,
Baihui Ma,
Hang Yang,
Guoyan Zhu,
Chang Shu,
Mingyao Luo,
Zhou Zhou

Affiliations

Tianjiao Li: 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
Baihui Ma: 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
Hang Yang: 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
Guoyan Zhu: 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
Chang Shu: 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
Mingyao Luo: 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
Zhou Zhou: 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; Corresponding author.

Journal volume & issue: Vol. 56
p. 102543

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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