Patient fibroblasts and derived iPSC lines were sent to the Johns
Hopkins University Genetic Resources Core Facility for STR DNA profile analysis
using a Promega
PowerPlex 18D Kit. The PCR product was electrophoresed on an ABI
Prism
® 3730x1 Genetic Analyzer and data was analyzed using
GeneMapper
® v 4.0 software (Applied Biosystems).
Li R., Pradhan M., Xu M., Baskfield A., Farkhondeh A., Cheng Y.S., Beers J., Zou J., Liu C., Might M., Rodems S, & Zheng W. (2018). Generation of an induced pluripotent stem cell line (TRNDi002-B) from a patient carrying compound heterozygous p.Q208X and p.G310G mutations in the NGLY1 gene. Stem cell research, 34, 101362.