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Cellosaurus 8807 (CVCL_EQ48)

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Cell line name 8807
Synonyms 7276
Accession CVCL_EQ48
Resource Identification Initiative To cite this cell line use: 8807 (RRID:CVCL_EQ48)
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:7708; NDUFS2; Simple; p.Asp446Asn (c.1336G>A); 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 Female
Age at sampling 7M
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)

Cross-references
Encyclopedic resources Wikidata; Q54605463
Gene expression databases GEO; GSM666042
GEO; GSM666043
Entry history
Entry creation26-Sep-2016
Last entry update10-Apr-2025
Version number12