Researchers from the UK generated 4 new induced pluripotent stem cell (iPSC) lines from patients with spinal muscular atrophy with lower extremity dominant (SMALED), according to a study.

The new cell lines can be used as disease-specific cellular models to better understand the biological mechanisms underlying the SMALED phenotype, Lyn Healy, PhD, from the Francis Crick Institute in London, England, and colleagues noted.

The team of researchers first obtained dermal fibroblasts from 4 patients with SMALED in the UK Medical Research Council (MRC) Neuromuscular Disease Biobank. Two of the patients were 3 years of age, the third was 11 years of age, and the last patient was 40 years of age. 

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The laboratory resource is published in the journal Stem Cell Research.

The researchers then reprogrammed the fibroblasts using a nonintegrating mRNA-based protocol and characterized the cell lines that they called CRICKi004-A, CRICKi005-A, CRICKi006-A, and CRICKi007-A through karyotyping and Sanger sequencing. They confirmed the pluripotency and differentiation potential of the cells by assessing the expression of associated markers such as octamer-binding transcription factor 4 and stage-specific embryonic antigen-4.

They ensured the absence of mycoplasma contamination using PCR, and they sent the cells for mycoplasma testing every 3 passages since the start of reprogramming.

SMALED is an autosomal dominant neuromuscular disease caused by a mutation in the DYNC1H1 gene, which encodes a microtubule motor protein in the dynein-dynactin complex. The disease can also be caused by a mutation in the BICD2 gene, which encodes 1 of a family of proteins called golgins that help maintain the structure of the Golgi apparatus.

The disease is characterized by nonprogressive or early-onset muscle weakness affecting the proximal muscles of the lower extremities causing atrophy and paralysis due to the degeneration of the motor neurons of the spinal cord.


Devito LG, Cooper F, D’Angelo I, Smith J, Healy L. Generation of four iPSC lines (CRICKi004-A; CRICKi005-A; CRICKi006-A, CRICKi007-A) from spinal muscle atrophy patients with lower extremity dominant (SMALED) phenotype. Stem Cell Res. Published online November 1, 2022. doi:10.1016/j.scr.2022.102954