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.

• Author(s): Inácio, José M. ; Almeida, Micael ; Cristo, Fernando ; A. Belo, José
• Date: 2020
• Persistent ID: http://hdl.handle.net/10362/90668
• Origin: Repositório Institucional da UNL
• Subject(s): Developmental Biology; Cell Biology; SDG 3 - Good Health and Well-being
• Document Type: Journal article
• Language: English
• Contributor(s): Centro de Estudos de Doenças Crónicas (CEDOC); NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM); RUN

Description

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.

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.