Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Engineered Cell Cultures
Class Disorders of the Mitochondrial Genome
Cell Type Cytoplasmic transfer (cybrid)
Species Homo sapiens
Common Name Human
Remarks Cybrid cell line produced by the fusion of enucleated cells from a donor line from a patient with Leigh syndrome (GM13740) carrying a m8993T>G mutation in the ATP6 gene to a line devoid of mtDNA derived from the 143BTK- osteosarcoma cell line (ATCC CRL 8303). The cybrid line exhibited reduced state III respiration and reduced ADP/O ratio. This line will only be shipped frozen.
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
Remark Cybrid cell line produced by the fusion of enucleated cells from a donor line from a patient with Leigh syndrome (GM13740) carrying a m8993T>G mutation in the ATP6 gene to a line devoid of mtDNA derived from the 143BTK- osteosarcoma cell line (ATCC CRL 8303). The cybrid line exhibited reduced state III respiration and reduced ADP/O ratio. This line will only be shipped frozen.
Chin RM, Panavas T, Brown JM, Johnson KK, Optimized Mitochondrial Targeting of Proteins Encoded by Modified mRNAs Rescues Cells Harboring Mutations in mtATP6 Cell reports22:2818-2826 2017
PubMed ID: 29539412
 
Trounce I, Neill S, Wallace DC, Cytoplasmic transfer of the mtDNA nt 8993 T-->G (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio. Proc Natl Acad Sci U S A91:8334-8 1994
PubMed ID: 8078883
No data is available
Split Ratio 1:8
Temperature 37 C
Percent CO2 8%
Percent O2 AMBIENT
Medium Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine or equivalent
Serum 10% fetal bovine serum Heat Inactivated
Substrate None specified
Subcultivation Method trypsin-EDTA
Supplement Sodium Pyruvate 100 ug/ml
Supplement Uridine 50 ug/ml