Researchers from Poland generated a new human-induced pluripotent stem cell (hiPSC) line, which they called the DMBi002-A line, to examine the mechanisms of neuromuscular junction disruption in patients with spinal muscular atrophy (SMA) type 3. This laboratory resource was published in the journal Stem Cell Research.

The cell line was generated from peripheral blood mononuclear cells of a Caucasian 32-year-old male patient with SMA type 3 while using Sendai virus vectors.

“These cells will be differentiated into skeletal muscle cells and motor neurons and will be used for omics analyses and drug testing,” Kalina Andrysiak and coauthors wrote. Andrysiak is from the Department of Medical Biotechnology, Faculty of Biochemistry, Biophysics and Biotechnology, at Jagiellonian University in Kraków, Poland.

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Following the generation of the cell line, the researchers characterized and validated it using different techniques. First, they assessed the morphology of the cells, which they described as being typical of normal undifferentiated hiPSC.

Read more about SMA etiology

Using immunohistochemistry, they confirmed the pluripotency of the cells based on markers such as OCT4, SSEA-4, TRA-1-60, TRA-1-81, and NANOG. The researchers also reported that they did not detect the Sendai vector, which they used to generate the line in the generated cells. 

The team also assessed the ploidy of the cell line using karyotyping and noted no differences in ploidy. They verified the absence of contamination via mycoplasma testing.

Finally, the researchers confirmed the presence of the mutation in the SMN1 gene, which is the cause of the disease, using medical genetic examination. 

In humans, there is a second gene called SMN2, which encodes some functional protein. The severity of the disease is associated with the number of copies of the SMN2 gene and people with milder SMA type 3 usually have more SMN2 copies.


Andrysiak K, Martyniak A, Potulska-Chromik A, Kostera-Pruszczyk A, Stępniewski J, Dulak J. Generation of DMBi002-A human induced pluripotent stem cell line from patient with spinal muscular atrophy type 3. Stem Cell Res. 2021;13;57:102563. doi:10.1016/j.scr.2021.102563