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Researchers Develop 2 Stem Cell Lines from Skin Cells of Gaucher Disease Patients

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Thursday, January 17, 2019

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PENSACOLA, Fl. - Two new stem cell lines from patients with Gaucher disease have been developed and made available for studies, researchers report.

The induced pluripotent stem cell (iPSC) lines — adult cells reprogrammed to a stem cell-like state that can give rise to any tissue in the human body — were described in the study, "Generation of two iPSC lines derived from two unrelated patients with Gaucher disease," published in the journal Stem Cell Research.

When stem cells are given specific biochemical cues, they can be reprogrammed to become any other kind of cell — a lung cell, liver cell, blood cell, etc. Because of this, stem cells are useful tools for both researchers and clinicians, who can study them to see how different kinds of cells develop and behave, to test new therapies, and even for their potential in regenerative medicine.

However, human stem cells can be hard to acquire directly from people. For this reason, researchers often rely on iPSCs. These are cells that act like stem cells in terms of their ability to become other cell types, but these cells are engineered from differentiated adult cells.

In this study, researchers used fibroblasts — cells collected from the skin — from two patients with Gaucher disease: a 21-month-old girl and a 4-year-old girl. Both patients had mutations in the β-glucocerebrosidase gene (GBA), which is the hallmark of Gaucher disease.

The researchers reprogrammed the fibroblasts by inserting stem cell genes into them. They then observed the cells as they grew and identified stem cell-like groups. They isolated these cells and grew them further, then tested the cells to see if they behaved as expected.

The genotype of the cells was what was expected: They produced the expected proteins, their genetic expression patterns were similar to that of a previously established stem cell line, and the researchers demonstrated that the cells could be induced toward multiple different fates. They also sequenced the GBA gene in both lines to confirm the right mutations had been maintained, which was the case.

"The two generated iPSC lines show distinct expression patterns compared to fibroblasts and have similar expression patterns as the human embryonic stem cell line," the researchers wrote. "The differentiation potential of the iPSC lines towards the three germ layers was further demonstrated ..., confirming pluripotency of the generated iPSC lines."

In addition, the cells were confirmed to be free of contamination, and they have been made available for researchers in the scientific community. With these cells, future studies may be able to clarify how the disease-causing mutations in GBA affect the ways in which different cells develop, which might further understanding of Gaucher disease.

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Author: Marisa Wexler
Source: Gaucher Disease News
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