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Cellosaurus GM13740 (CVCL_8A62)

[Text version]
Cell line name GM13740
Accession CVCL_8A62
Resource Identification Initiative To cite this cell line use: GM13740 (RRID:CVCL_8A62)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 7414; MT-ATP6; Simple; p.Leu156Arg (m.8993T>G); ClinVar=VCV000009641; Zygosity=Homoplasmic (Coriell=GM13740).
Disease Leigh disease (NCIt: C84814)
Leigh syndrome (ORDO: Orphanet_506)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_IW03 (GM16530)
Sex of cell Male
Age at sampling 12Y
Category Transformed cell line
Publications

PubMed=8078883; DOI=10.1073/pnas.91.18.8334
Trounce I.A., Neill S., Wallace D.C.
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.A. 91:8334-8338(1994)

Cross-references
Cell line collections (Providers) Coriell; GM13740
Cell line databases/resources CLO; CLO_0032767
Biological sample resources BioSample; SAMN00802584
Encyclopedic resources Wikidata; Q54846768
Entry history
Entry creation23-Feb-2016
Last entry update30-Jan-2024
Version number13