ID   GM11605
AC   CVCL_JE93
DR   CLO; CLO_0021184
DR   Coriell; GM11605
DR   Wikidata; Q54845187
CC   Sequence variation: Mutation; HGNC; HGNC:7455; MT-ND1; Simple; p.Ala52Thr (m.3460G>A); ClinVar=VCV000009722; Zygosity=Unspecified (Coriell=GM11605).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
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   Female
AG   40Y
CA   Transformed cell line
DT   Created: 15-05-17; Last updated: 19-12-24; Version: 10
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