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Table 1 Calculation of heteroplasmy of LCLs

From: Patient-derived lymphoblastoid cell lines harboring mitochondrial DNA mutations as tool for small molecule drug discovery

Panel (A)

GM00333 (wildtype)

Ct(wildtype) − Ct(mutant)

% mutant mtDNA

3460G>A (ND1)

− 9.92 ± 0.08

0.1 ± 0.01

11778G>A (ND4)

− 10.47 ± 0.15

0.07 ± 0.01

8993T>G (ATP6)

− 9.93 ± 0.48

0.13 ± 0.04

Panel (B)

Strain

Ct(wildtype) − Ct(mutant)

% mutant mtDNA

GM11605 (ND1_3460G>A)

12.42 ± 0.45

99.98 ± 0.01

GM10742 (ND4_11778G>A)

8.75 ± 0.57

99.71 ± 0.06

GM10744 (ND4_11778G>A)

8.99 ± 0.05

99.8 ± 0.01

GM13741 (ATP6_8993T>G)

6.94 ± 0.61

98.81 ± 0.39

GM13740 (ATP6_8993T>G)

7.76 ± 0.55

99.37 ± 0.2

GM11605:GM00333 (1:1)

0.7 ± 0.27

61.64 ± 4.46

GM11605:GM00333 (1:5)

− 2.05 ± 0.2

19.61 ± 2.16

  1. (A) ARMS-qPCR was used to quantify wildtype or mutant forms of mtDNA in the 3 loci shown using total DNA isolated from GM00333 (wildtype) LCLs. Heteroplasmy was calculated based on Ct values. GM00333 (wildtype) cells have < 0.13% mutant mtDNA in either of the loci analyzed
  2. (B) Similarly, heteroplasmy was calculated for LCLs known to harbor mtDNA mutations at the loci indicated. As a control, DNA isolated from GM11605 or GM00333 were mixed in the ratios shown prior to qPCR, and yields expected heteroplasmy values
  3. Average ± SEM for three independent experiments are shown
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BMC Research Notes

ISSN: 1756-0500

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