ID   GM28095
AC   CVCL_B0IR
DR   Coriell; GM28095
DR   Wikidata; Q108820309
CC   Population: Caucasian; Austrian.
CC   Sequence variation: Mutation; HGNC; HGNC:11474; SURF1; Simple; p.Tyr133Asp (c.397T>G); Zygosity=Heterozygous (Coriell=GM28095).
CC   Sequence variation: Mutation; HGNC; HGNC:11474; SURF1; Simple; p.Arg192Profs*8 (c.574_575insCTGC); ClinVar=VCV000419973; Zygosity=Heterozygous (Coriell=GM28095).
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   4Y
CA   Finite cell line
DT   Created: 23-09-21; Last updated: 19-12-24; Version: 7
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