Abstract

Since the discovery of induced pluripotent stem cells
(iPSCs) over 10 years ago, they have emerged as excellent candidates for
modelling human disease. The use of iPSCs as optimised models for disease has
paved the way for the evolution of personalised and patient-specific therapies.
They are an especially useful tool in studying the phenotypic effect of genetic
variants in inherited diseases, as iPSCs have the potential to differentiate into
any cell type and can recapitulate the distinctive features of the diseased
cells and tissues. This is where the use of iPSCs is preferable because they
can be derived from a simple skin biopsy or blood sample, which removes the
need to take a sample from the tissue in question which may require invasive
surgery, for example.

The Human Induced Pluripotent Stem
Cell Initiative (HipSci), established in 2012, produced a large, high-quality
reference panel of human induced pluripotent stem cell lines using a
standardised and well-defined experimental pipeline. The collection includes
hundreds of cell lines from healthy donors, plus several cohorts of donors with
inherited genetic diseases e.g. Bardet-Biedl syndrome, Macular Dystrophy and
Kabuki Syndrome. HipSci cell lines are banked and made available to researchers
from academic and not-for-profit institutions from the European Collection of
Authenticated Cell Cultures (ECACC). ECACC undertakes standardised banking and
subsequent extensive quality control testing to validate the high standard of
the HipSci iPSC products.

What
makes the HipSci collection stand out from other iPSC collections is the
extensive catalogue of assay data available for each cell line, which is the
focal point of this study. In addition to viability, morphology, sterility and
authentication testing, a variety of additional assays have also been performed
on these iPSC lines. These assays include genotyping and expression arrays,
RNA-seq, DNA methylation analysis and proteomic mass spectrometry. All of this extensive
characterisation information is available in the data browser on the HipSci
website, making
it an easily accessible global resource for the research community.