ID   GM28013
AC   CVCL_A2YS
DR   Coriell; GM28013
DR   Wikidata; Q105507442
CC   Population: Indian.
CC   Sequence variation: Mutation; HGNC; HGNC:7414; MT-ATP6; Simple; p.Ile143Val (m.8953A>G); ClinVar=VCV000693034; Zygosity=Homoplasmic (Coriell=GM28013).
CC   Sequence variation: Mutation; HGNC; HGNC:11474; SURF1; Simple; p.Gln251Ter (c.751C>T); ClinVar=VCV000012762; Zygosity=Heterozygous (Coriell=GM28013).
CC   Sequence variation: Mutation; HGNC; HGNC:11474; SURF1; Simple; p.Thr266Asnfs*26 (c.796dupA); ClinVar=VCV000524066; Zygosity=Heterozygous (Coriell=GM28013).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
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   Female
AG   4Y
CA   Finite cell line
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 7
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