Cellosaurus cell line 5175 (CVCL

Cross-references
Cell line name	5175
Accession	CVCL_EQ44
Resource Identification Initiative	To cite this cell line use: 5175 (RRID:CVCL_EQ44)
Comments	Omics: Transcriptome analysis by microarray. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:7714; NDUFS7; Simple; p.Val122Met (c.364G>A); ClinVar=VCV000007681; Zygosity=Homozygous (PubMed=22033105).
Disease	NADH dehydrogenase deficiency (NCIt: C98994) Isolated complex I deficiency (ORDO: Orphanet_2609)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	3Y
Category	Finite cell line
Publications	PubMed=22033105; DOI=10.1016/j.bbadis.2011.10.009 Voets A.M., Huigsloot M., Lindsey P.J., Leenders A.M., Koopman W.J.H., Willems P.H.G.M., Rodenburg R.J., Smeitink J.A.M., Smeets H.J.M. Transcriptional changes in OXPHOS complex I deficiency are related to anti-oxidant pathways and could explain the disturbed calcium homeostasis. Biochim. Biophys. Acta 1822:1161-1168(2012)
Encyclopedic resources	Wikidata; Q54603691
Gene expression databases	GEO; GSM666034 GEO; GSM666035
Entry history
Entry creation	26-Sep-2016
Last entry update	19-Dec-2024
Version number	11