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 | |
| Publication status | Published - 2020 |
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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, 2020.Research output: Contribution to journal › Article
TY - JOUR
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.
PY - 2020
Y1 - 2020
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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85076634476&partnerID=8YFLogxK
U2 - 10.1016/j.scr.2019.101677
DO - 10.1016/j.scr.2019.101677
M3 - Article
VL - 42
JO - STEM CELL RESEARCH THERAPY
JF - STEM CELL RESEARCH THERAPY
SN - 1757-6512
M1 - 101677
ER -