Generation of a gene-corrected human induced pluripotent stem cell line derived from a patient with laterality defects and congenital heart anomalies with a c.455G > A alteration in DAND5.

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Abstract

Human induced pluripotent stem cells (hiPSCs) from individual patient basis are considered a powerful resource to model human diseases. However, to study complex multigenic diseases such as Congenital Heart Disease, it is crucial to generate perfect isogenic controls to understand gene singularity and contribution. Here, we report the engendering of an isogenic hiPSC line with homozygous correction of c.455G > A alteration in the DAND5 gene, using CRISPR/Cas9 technology. The characterization of a clone of this cell line demonstrates normal karyotype, pluripotent state, and potential to differentiate in vitro towards endoderm, mesoderm, and ectoderm.

Original languageEnglish
Article number101677
JournalStem Cell Research
Volume42
DOIs
Publication statusPublished - 2020

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Induced Pluripotent Stem Cells
Congenital Heart Defects
Stem cells
Clustered Regularly Interspaced Short Palindromic Repeats
Genes
Cell Line
Defects
Endoderm
Ectoderm
Mesoderm
Karyotype
Heart Diseases
Clone Cells
Technology
Cells
In Vitro Techniques

Cite this

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abstract = "Human induced pluripotent stem cells (hiPSCs) from individual patient basis are considered a powerful resource to model human diseases. However, to study complex multigenic diseases such as Congenital Heart Disease, it is crucial to generate perfect isogenic controls to understand gene singularity and contribution. Here, we report the engendering of an isogenic hiPSC line with homozygous correction of c.455G > A alteration in the DAND5 gene, using CRISPR/Cas9 technology. The characterization of a clone of this cell line demonstrates normal karyotype, pluripotent state, and potential to differentiate in vitro towards endoderm, mesoderm, and ectoderm.",
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AU - Inácio, José M.

AU - Almeida, Micael

AU - Cristo, Fernando

AU - Belo, José A.

PY - 2020

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