title: 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 LCLs that are commonly used in SMA research. Using these molecular identity codes, we clarify the familial relationships within a set of fibroblasts commonly used in SMA research. This study presents the first cell line reference set for the SMA research community and demonstrates its usefulness for re-identification and authentication of lines commonly used as in vitro models for future studies.
authors.affiliation: Nemours Biomolecular Core Laboratory, Nemours Biomedical Research, Nemours Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
authors.forename: Deborah L
authors.initials: DL
authors.lastname: Stabley
authors.affiliation: Nemours Biomolecular Core Laboratory, Nemours Biomedical Research, Nemours Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
authors.forename: Jennifer
authors.initials: J
authors.lastname: Holbrook
authors.affiliation: Center for Applied Clinical Genomics, Nemours Biomedical Research, Nemours Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
authors.forename: Ashlee W
authors.initials: AW
authors.lastname: Harris
authors.affiliation: Neurogenetics Research Program, Center for Human Genetics Research, Massachusetts General Hospital, Boston, MA, USA.
authors.forename: Kathryn J
authors.initials: KJ
authors.lastname: Swoboda
authors.affiliation: Department of Neurology, Johns Hopkins University, Baltimore, MD, USA; Department of Pediatrics, Johns Hopkins University, Baltimore, MD, USA.
authors.forename: Thomas O
authors.initials: TO
authors.lastname: Crawford
authors.affiliation: Nemours Biomolecular Core Laboratory, Nemours Biomedical Research, Nemours Alfred I. duPont Hospital for Children, Wilmington, DE, USA; Center for Pediatric Research, Nemours Biomedical Research, Nemours Alfred I. duPont Hospital for Children, Wilmington, DE, USA; Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, USA.
authors.forename: Katia
authors.initials: K
authors.lastname: Sol-Church
authors.affiliation: Center for Applied Clinical Genomics, Nemours Biomedical Research, Nemours Alfred I. duPont Hospital for Children, Wilmington, DE, USA; Center for Pediatric Research, Nemours Biomedical Research, Nemours Alfred I. duPont Hospital for Children, Wilmington, DE, USA; Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, USA; Department of Biological Sciences, University of Delaware, Newark, DE, USA. Electronic address: butchbach@nemoursresearch.org.
authors.forename: Matthew E R
authors.initials: MER
authors.lastname: Butchbach
mesh_terms: D002460:Cell Line; D056915:DNA Copy Number Variations; D005190:Family; D005347:Fibroblasts / Q000166:cytology* / Q000378:metabolism*; D006801:Humans; D018895:Microsatellite Repeats; D009134:Muscular Atrophy, Spinal / Q000235:genetics / Q000378:metabolism*; D016133:Polymerase Chain Reaction; D012016:Reference Values; D055533:Survival of Motor Neuron 1 Protein / Q000235:genetics / Q000378:metabolism; D055540:Survival of Motor Neuron 2 Protein / Q000235:genetics / Q000378:metabolism; D054928:Validation Studies as Topic
chemical_list: C526471:SMN1 protein, human; C526477:SMN2 protein, human; D055533:Survival of Motor Neuron 1 Protein; D055540:Survival of Motor Neuron 2 Protein
keywords: Cell line authentication; Digital PCR; SMN1; SMN2; Short tandem repeat profiling; Spinal muscular atrophy