Mitochondrial DNA sequencing of HepaRG and SJCRH30 human cell lines

In comparison to the revised Cambridge Reference Sequence (NC_012920), HepaRG and SJCRH30 mtDNAs each contain 14 nucleotide variations. In addition to an insertion of a cytosine at position 315 (315insC), the mtDNA sequences from both cell types share six common polymorphisms. Heteroplasmic variants were identified in both cell types and included the identification of the 315insC variant at 42 and 75% heteroplasmy in HepaRG and SJCRH30 mtDNAs respectively. Additionally, a novel heteroplasmic G13633A substitution in the HepaRG ND5 gene was detected at 33%. Previously reported cancer-associated mtDNA variants T195C and T16519C were identified in SJCRH30, both at 100% homoplasmy, while HepaRG mtDNA harbors a known prostate cancer-associated T6253C substitution at near homoplasmy, 95%. Based on our sequencing analysis, HepaRG mtDNA is predicted to lie within haplogroup branch H15a1 while SJCRH30 mtDNA is predicted to localize to H27c.