ID   GM28034
AC   CVCL_B0I3
DR   Coriell; GM28034
DR   Wikidata; Q108820299
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:11474; SURF1; Simple; p.Trp278Ter (c.834G>A); ClinVar=VCV000928763; Zygosity=Heterozygous (Coriell=GM28034).
CC   Sequence variation: Mutation; HGNC; HGNC:11474; SURF1; Simple; p.Ser282Cysfs*9 (c.841_842CT[2]) (c.845_846delCT); ClinVar=VCV000012770; Zygosity=Heterozygous (Coriell=GM28034).
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   Male
AG   5Y
CA   Finite cell line
DT   Created: 23-09-21; Last updated: 19-12-24; Version: 7
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