ID   5175
AC   CVCL_EQ44
DR   GEO; GSM666034
DR   GEO; GSM666035
DR   Wikidata; Q54603691
RX   PubMed=22033105;
CC   Sequence variation: Mutation; HGNC; HGNC:7714; NDUFS7; Simple; p.Val122Met (c.364G>A); ClinVar=VCV000007681; Zygosity=Homozygous (PubMed=22033105).
CC   Omics: Transcriptome analysis by microarray.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C98994; NADH dehydrogenase deficiency
DI   ORDO; Orphanet_2609; Isolated complex I deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   3Y
CA   Finite cell line
DT   Created: 26-09-16; Last updated: 19-12-24; Version: 11
//
RX   PubMed=22033105; DOI=10.1016/j.bbadis.2011.10.009;
RA   Voets A.M., Huigsloot M., Lindsey P.J., Leenders A.M., Koopman W.J.H.,
RA   Willems P.H.G.M., Rodenburg R.J., Smeitink J.A.M., Smeets H.J.M.;
RT   "Transcriptional changes in OXPHOS complex I deficiency are related to
RT   anti-oxidant pathways and could explain the disturbed calcium
RT   homeostasis.";
RL   Biochim. Biophys. Acta 1822:1161-1168(2012).
//