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: Transcriptomics; 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 An M. Voets, Merei Huigsloot, Patrick J. Lindsey, Anne M. Leenders, Werner J.H. Koopman, Peter H.G.M. Willems, Richard J. Rodenburg, Johannes Albertus Maria Smeitink, Hubert J.M. Smeets; 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	10-Apr-2025
Version number	12