Study

Control iPSC lines with clinically annotated genetic variants for versatile multi-lineage differentiation

Study ID Alternative Stable ID Type
EGAS00001003684 Other

Study Description

Induced Pluripotent Stem Cells (iPSC) derived from healthy individuals are important controls for disease modeling studies. To create a resource of genetically annotated iPSC, we reprogrammed footprint-free lines from four volunteers in the Personal Genome Project Canada (PGPC). Multilineage directed differentiation efficiently produced functional cortical neurons, cardiomyocytes and hepatocytes. Pilot users further demonstrated line versatility by generating kidney organoids, T-cells and sensory neurons. A frameshift knockout was introduced into MYBPC3 and these cardiomyocytes exhibited a hypertrophic phenotype as expected. WGS annotation of PGPC lines revealed on average 20 coding variants. Importantly, nearly all annotated PGPC and HipSci lines harboured at least one pre-existing or acquired variant with cardiac, neurological or other disease associations. Overall, PGPC lines were efficiently differentiated by multiple users into cell types found in six tissues for disease modelling, and clinical annotation highlighted variant-preferred lines for use as unaffected controls in ... (Show More)

Study Datasets 2 datasets.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001005066
Four iPSC line data were sequenced by WGS. One of them has gene MYBPC3 modified.
HiSeq X Five 4
EGAD00001005359
This is 2nd part of data for original Control iPSC lines with clinically annotated genetic variants for versatile multi-lineage differentiation,
HiSeq X Five 1

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