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Cellosaurus UCLi010-B (CVCL_VF16)

[Text version]

Cell line name UCLi010-B
Synonyms R191Q 2; GL1B
Accession CVCL_VF16
Resource Identification Initiative To cite this cell line use: UCLi010-B (RRID:CVCL_VF16)
Comments From: University College London; London; UK.
Sequence variations Heterozygous for VCP p.Arg191Gln (c.572G>A) (PubMed=28360103).
Disease Frontotemporal dementia (NCIt: C84719)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_VF15 ! UCLi010-A
Sex of cell Male
Age at sampling 45Y
Category Induced pluripotent stem cell
Publications

PubMed=28360103; DOI=10.1074/jbc.M116.762898
Ludtmann M.H.R., Arber C., Bartolome F., de Vicente M., Preza E., Carro E., Houlden H., Gandhi S., Wray S., Abramov A.Y.
Mutations in valosin-containing protein (VCP) decrease ADP/ATP translocation across the mitochondrial membrane and impair energy metabolism in human neurons.
J. Biol. Chem. 292:8907-8917(2017)

Cross-references
Cell line databases/resources hPSCreg; UCLi010-B
Biological sample resources BioSamples; SAMEA4675630
Other Wikidata; Q54989681
Entry history
Entry creation14-May-2018
Last entry updated05-Jul-2019
Version number3