Cellosaurus logo
expasy logo

Cellosaurus GM10742 (CVCL_Y652)

[Text][XML][JSON]
Cell line name GM10742
Synonyms GM10742A
Accession CVCL_Y652
Resource Identification Initiative To cite this cell line use: GM10742 (RRID:CVCL_Y652)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Omics: Genomics; Mitochondrial genome sequencing.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:7459; MT-ND4; Simple; p.Arg340His (m.11778G>A); ClinVar=VCV000009708; Zygosity=Unspecified (PubMed=16120335; Coriell=GM10742).
Disease Leber hereditary optic atrophy (NCIt: C84808)
Leber hereditary optic neuropathy (ORDO: Orphanet_104)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 30Y
Category Transformed cell line
Publications

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=16120335; DOI=10.1016/S1567-7249(03)00010-2
Barbara C. Levin, Koren A. Holland, Diane K. Hancock, Michael Coble, Thomas J. Parsons, Laura J. Kienker, Diana W. Williams, MaryPat Jones, Kristy L. Richie;
Comparison of the complete mtDNA genome sequences of human cell lines -- HL-60 and GM10742A -- from individuals with pro-myelocytic leukemia and Leber hereditary optic neuropathy, respectively, and the inclusion of HL-60 in the NIST human mitochondrial DNA standard reference material -- SRM 2392-I.
Mitochondrion 2:387-400(2003)

Cross-references
Cell line collections (Providers) Coriell; GM10742
Cell line databases/resources CLO; CLO_0023698
Biological sample resources BioSample; SAMN00800184
Encyclopedic resources Wikidata; Q54844630
Entry history
Entry creation10-Apr-2015
Last entry update10-Apr-2025
Version number18