ID   GM28072
AC   CVCL_D6X2
DR   Coriell; GM28072
CC   Population: Caucasian; Polish.
CC   Sequence variation: Mutation; HGNC; HGNC:11474; SURF1; Simple; p.Ser282Cysfs*9 (c.841_842CT[2]) (c.845_846delCT); ClinVar=VCV000012770; Zygosity=Homozygous (Coriell=GM28072).
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   Female
AG   9Y
CA   Finite cell line
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
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