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

Deborah L. Stabley, Jennifer Holbrook, Ashlee W. Harris, Kathryn J. Swoboda, Thomas Owen Crawford, Katia Sol-Church, Matthew E R Butchbach

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
JournalNeuromuscular Disorders
DOIs
StateAccepted/In press - Nov 30 2016

Keywords

  • Cell line authentication
  • Digital PCR
  • Short tandem repeat profiling
  • SMN1
  • SMN2
  • Spinal muscular atrophy

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Clinical Neurology
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR'. Together they form a unique fingerprint.

  • Cite this