Researchers from the Genetic Testing Reference Materials Coordination Program (GeT-RM) have published a study (PMID: 33197628) in collaboration with the NIGMS Repository, to establish genotypic characterizations of high quality reference materials for Spinal Muscular Atrophy (SMA). Using cell lines publicly available from the NIGMS Repository catalog, GeT-RM coordinated a multi-site study to perform molecular analysis of copy number variations of SMN1 and SMN2, the genes associated with SMA. This study highlights the consistency with which genetic results can be obtained and replicated using established cell lines.
In this publication, four testing laboratories were provided anonymized SMA samples comprising both lymphoblastoid and fibroblast cell lines to genotype the SMN1 and SMN2 alleles using the following methods: Multiplex Ligation-Dependent Probe Amplification (MLPA), Quantitative PCR (qPCR), and Asuragen AmplideX PCR. The results of the study show a high degree of concordance between the results from all four sites, providing evidence that the cell lines are of high quality and can be reliably used for genetic analyses of SMN1 and SMN2 using a variety of genotyping methodologies.
