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Cellosaurus GM10744 (CVCL_Y653)

[Text version]
Cell line name GM10744
Synonyms GM10744A
Accession CVCL_Y653
Resource Identification Initiative To cite this cell line use: GM10744 (RRID:CVCL_Y653)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
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 (Coriell=GM10744).
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 53Y
Category Transformed cell line
Publications

CLPUB00447
Mulivor R.A., Suchy S.F.
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)

Cross-references
Cell line collections (Providers) Coriell; GM10744
Cell line databases/resources CLO; CLO_0023683
Biological sample resources BioSample; SAMN00800186
Encyclopedic resources Wikidata; Q54844631
Entry history
Entry creation10-Apr-2015
Last entry update19-Dec-2024
Version number15