Spotlight on PhD Students: Generation of induced pluripotent stem cell lines (CSS012-A (7672) and CSSi011-A (6534)) carrying peculiar mutations

Mercoledì 24 Novembre 2021
Elisa Perciballi contributed in the characterisation and generation of the cell lines in the study of ALS.
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TeCSBi SPOTLIGHT on PhD students

Comment by Davide Panzeri  ( Labra’s Lab )

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that damages progressively and selectively motoneurons, reducing mobility and muscular functionality. Although it has been known for decades, a cure does not exist yet. The generation of stem cell lines from patients with ALS is fundamental for the research of this disease.

Elisa Perciballi ( Vescovi’s Lab ), under the supervision of Daniela Ferrari ( Ferrari’s Lab )  contributed actively and successfully in the creation of two stem cell lines from two patients carrying key mutations, one in the TAR DNA Binding Protein (TARDBP) and one in the Superoxide Dismutase 1 (SOD1). The use of these cell lines could improve our knowledge in the fight against ALS and for finding new therapeutic targets.

These works are published in the Journal Stem Cell Research, that is focused on stem cells topic.

Great job Elisa, keep on this important work!

 

These are the two published reports:

-Generation of an induced pluripotent stem cell line, CSSi011-A (6534), from an Amyotrophic lateral sclerosis patient with heterozygous L145F mutation in SOD1 gene. Stem Cell Res. 2020 Jul 25;47:101924. 10.1016/j.scr.2020.101924

-Generation of an induced pluripotent stem cell line (CSS012-A (7672)) carrying the p.G376D heterozygous mutation in the TARDBP protein.  Stem Cell Res. 2021 May;53:102356.   10.1016/j.scr.2021.102356 

 

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