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.

José M. Inácio; Micael Almeida; Fernando Cristo; José A. Belo

doi:10.1016/j.scr.2019.101677

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.

José M. Inácio, Micael Almeida, Fernando Cristo, José A. Belo

Research output: Contribution to journal › Article › peer-review

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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 language	English
Article number	101677
Journal	Stem Cell Research
Volume	42
DOIs	https://doi.org/10.1016/j.scr.2019.101677
Publication status	Published - Jan 2020

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title = "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.",

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.",

author = "In{\'a}cio, {Jos{\'e} M.} and Micael Almeida and Fernando Cristo and Belo, {Jos{\'e} A.}",

note = "This work was supported by Funda{\c c}{\~a}o para a Ci{\^e}ncia e a Tecnologia (PTDC/ BIM-MED/3363/2014) and iNOVA4Health -UID/Multi/04462/ 2013, a program financially supported by Funda{\c c}{\~a}o para a Ci{\^e}ncia e Tecnologia/ Minist{\'e}rio da Educa{\c c}{\~a}o e Ci{\^e}ncia, through national funds and co-funded by FEDER under the PT2020 Partnership Agreement.",

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language = "English",

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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. / Inácio, José M.; Almeida, Micael ; Cristo, Fernando ; Belo, José A.

In: Stem Cell Research, Vol. 42, 101677, 01.2020.

Research output: Contribution to journal › Article › peer-review

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T1 - 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.

AU - Inácio, José M.

AU - Almeida, Micael

AU - Cristo, Fernando

AU - Belo, José A.

N1 - This work was supported by Fundação para a Ciência e a Tecnologia (PTDC/ BIM-MED/3363/2014) and iNOVA4Health -UID/Multi/04462/ 2013, a program financially supported by Fundação para a Ciência e Tecnologia/ Ministério da Educação e Ciência, through national funds and co-funded by FEDER under the PT2020 Partnership Agreement.

PY - 2020/1

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N2 - 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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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.

Abstract

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