ID   GM28024
AC   CVCL_B0I0
DR   Coriell; GM28024
DR   Wikidata; Q108820296
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:21308; ELOVL5; Simple; c.246+3891C>T (p.Gln102Ter, c.304C>T); ClinVar=VCV000691282; Zygosity=Heterozygous (Coriell=GM28024).
CC   Sequence variation: Mutation; HGNC; HGNC:11474; SURF1; Simple; p.Met1_Ala5del (c-11_13delGGCCGGGTGCGATGGCGGCGGTGG) (c.-13_11del24); ClinVar=VCV000215241; Zygosity=Heterozygous (Coriell=GM28024).
CC   Sequence variation: Mutation; HGNC; HGNC:11474; SURF1; Simple; p.Leu105Ter (c.312_321del10insAT) (p.Pro104_Leu105insTer); ClinVar=VCV000215237; Zygosity=Heterozygous (Coriell=GM28024).
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   15Y
CA   Finite cell line
DT   Created: 23-09-21; Last updated: 19-12-24; Version: 7
//