ID   GM28016
AC   CVCL_A2YU
DR   Coriell; GM28016
DR   Wikidata; Q105507450
CC   Population: Caucasian; German.
CC   Sequence variation: Mutation; HGNC; HGNC:11474; SURF1; Simple; p.Gly124Arg (c.370G>A); dbSNP=rs782033035; Zygosity=Heterozygous (Coriell=GM28016).
CC   Sequence variation: Mutation; HGNC; HGNC:11474; SURF1; Simple; c.751+1G>A; ClinVar=VCV002081237; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM28016).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84814; Leigh disease
DI   NCIt; C176895; Mitochondrial complex IV deficiency, nuclear type 1
DI   ORDO; Orphanet_506; Leigh syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   2Y
CA   Finite cell line
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 7
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