ID   GM10742
AC   CVCL_Y652
SY   GM10742A
DR   CLO; CLO_0023698
DR   BioSample; SAMN00800184
DR   Coriell; GM10742
DR   Wikidata; Q54844630
RX   CelloPub=CLPUB00447;
RX   PubMed=16120335;
CC   Sequence variation: Mutation; HGNC; 7459; MT-ND4; Simple; p.Arg340His (m.11778G>A); ClinVar=VCV000009708; Zygosity=Unspecified (PubMed=16120335; Coriell=GM10742).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Omics: Mitochondrial genome sequenced.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84808; Leber hereditary optic atrophy
DI   ORDO; Orphanet_104; Leber hereditary optic neuropathy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   30Y
CA   Transformed cell line
DT   Created: 10-04-15; Last updated: 30-01-24; Version: 16
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RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//
RX   PubMed=16120335; DOI=10.1016/S1567-7249(03)00010-2;
RA   Levin B.C., Holland K.A., Hancock D.K., Coble M., Parsons T.J.,
RA   Kienker L.J., Williams D.W., Jones M., Richie K.L.;
RT   "Comparison of the complete mtDNA genome sequences of human cell
RT   lines-- HL-60 and GM10742A -- from individuals with pro-myelocytic
RT   leukemia and Leber hereditary optic neuropathy, respectively, and the
RT   inclusion of HL-60 in the NIST human mitochondrial DNA standard
RT   reference material -- SRM 2392-I.";
RL   Mitochondrion 2:387-400(2003).
//