Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR.

ABSTRACT: Fibroblasts and lymphoblastoid cell lines (LCLs) derived from individuals with spinal muscular atrophy (SMA) have been and continue to be essential for translational SMA research. Authentication of cell lines helps ensure reproducibility and rigor in biomedical research. This quality control measure identifies mislabeling or cross-contamination of cell lines and prevents misinterpretation of data. Unfortunately, authentication of SMA cell lines used in various studies has not been possible because of a lack of a reference. In this study, we provide said reference so that SMA cell lines can be subsequently authenticated. We use short tandem repeat (STR) profiling and digital PCR (dPCR), which quantifies SMN1 and SMN2 copy numbers, to generate molecular identity codes for fibroblasts and LCL

SUBMITTER: Stabley DL 

PROVIDER: S-EPMC5403612 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature