ID   8328
AC   CVCL_EQ47
DR   GEO; GSM666040
DR   GEO; GSM666041
DR   Wikidata; Q54605328
RX   PubMed=20382551;
RX   PubMed=22033105;
CC   Sequence variation: Mutation; HGNC; HGNC:7707; NDUFS1; Simple; p.Glu211del (c.631_633delGAA) (211delE); ClinVar=VCV002430648; Zygosity=Heterozygous (PubMed=20382551; PubMed=22033105).
CC   Sequence variation: Mutation; HGNC; HGNC:7707; NDUFS1; Simple; p.Val228Ala (c.683T>C); ClinVar=VCV000429933; Zygosity=Heterozygous (PubMed=20382551; 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   1Y
CA   Finite cell line
DT   Created: 26-09-16; Last updated: 19-12-24; Version: 10
//
RX   PubMed=20382551; DOI=10.1016/j.ymgme.2010.03.015;
RA   Hoefs S.J.G., Skjeldal O.H., Rodenburg R.J., Nedregaard B.,
RA   van Kaauwen E.P.M., Spiekerkoetter U., von Kleist-Retzow J.-C.,
RA   Smeitink J.A.M., Nijtmans L.G.J., van den Heuvel L.P.W.J.;
RT   "Novel mutations in the NDUFS1 gene cause low residual activities in
RT   human complex I deficiencies.";
RL   Mol. Genet. Metab. 100:251-256(2010).
//
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).
//