ID   GM13740
AC   CVCL_8A62
DR   CLO; CLO_0032767
DR   BioSample; SAMN00802584
DR   Coriell; GM13740
DR   Wikidata; Q54846768
RX   PubMed=8078883;
CC   Sequence variation: Mutation; HGNC; 7414; MT-ATP6; Simple; p.Leu156Arg (m.8993T>G); ClinVar=VCV000009641; Zygosity=Homoplasmic (Coriell=GM13740).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84814; Leigh disease
DI   ORDO; Orphanet_506; Leigh syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   12Y
CA   Transformed cell line
DT   Created: 23-02-16; Last updated: 30-01-24; Version: 13
//
RX   PubMed=8078883; DOI=10.1073/pnas.91.18.8334;
RA   Trounce I.A., Neill S., Wallace D.C.;
RT   "Cytoplasmic transfer of the mtDNA nt 8993 T-->G (ATP6) point mutation
RT   associated with Leigh syndrome into mtDNA-less cells demonstrates
RT   cosegregation with a decrease in state III respiration and ADP/O
RT   ratio.";
RL   Proc. Natl. Acad. Sci. U.S.A. 91:8334-8338(1994).
//