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.

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.

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 a...

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Main Authors: José M. Inácio, Micael Almeida, Fernando Cristo, José A. Belo
Format: Article
Language:English
Published: Elsevier 2020-01-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506119303071
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spelling doaj-9a510d1adfe347b8897a650576e21f452020-11-24T23:59:31ZengElsevierStem Cell Research1873-50612020-01-0142Generation 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. Inácio0Micael Almeida1Fernando Cristo2José A. Belo3Stem Cells and Development Laboratory, CEDOC, NOVA Medical School/Faculdade de Ciências Médicas, Universidade Nova de Lisboa, Lisbon, PortugalStem Cells and Development Laboratory, CEDOC, NOVA Medical School/Faculdade de Ciências Médicas, Universidade Nova de Lisboa, Lisbon, PortugalStem Cells and Development Laboratory, CEDOC, NOVA Medical School/Faculdade de Ciências Médicas, Universidade Nova de Lisboa, Lisbon, PortugalCorresponding author:; Stem Cells and Development Laboratory, CEDOC, NOVA Medical School/Faculdade de Ciências Médicas, Universidade Nova de Lisboa, Lisbon, PortugalHuman 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.http://www.sciencedirect.com/science/article/pii/S1873506119303071
collection DOAJ
language English
format Article
sources DOAJ
author José M. Inácio
Micael Almeida
Fernando Cristo
José A. Belo
spellingShingle José M. Inácio
Micael Almeida
Fernando Cristo
José A. Belo
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.
Stem Cell Research
author_facet José M. Inácio
Micael Almeida
Fernando Cristo
José A. Belo
author_sort José M. Inácio
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.
title_short 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.
title_full 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.
title_fullStr 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.
title_full_unstemmed 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.
title_sort 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.
publisher Elsevier
series Stem Cell Research
issn 1873-5061
publishDate 2020-01-01
description 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.
url http://www.sciencedirect.com/science/article/pii/S1873506119303071
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