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Cellosaurus UCLi010-B (CVCL_VF16)

[Text version]
Cell line name UCLi010-B
Synonyms R191Q 2; GL1B; MUT 4
Accession CVCL_VF16
Resource Identification Initiative To cite this cell line use: UCLi010-B (RRID:CVCL_VF16)
Comments From: University College London; London; United Kingdom.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
Disease Frontotemporal dementia (NCIt: C84719)
Behavioral variant of frontotemporal dementia (ORDO: Orphanet_275864)
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)

PubMed=28564594; DOI=10.1016/j.celrep.2017.05.024
Hall C.E., Yao Z., Choi M., Tyzack G.E., Serio A., Luisier R., Harley J., Preza E., Arber C., Crisp S.J., Watson P.M.D., Kullmann D.M., Abramov A.Y., Wray S., Burley R., Loh S.H.Y., Martins L.M., Stevens M.M., Luscombe N.M., Sibley C.R., Lakatos A., Ule J., Gandhi S., Patani R.
Progressive motor neuron pathology and the role of astrocytes in a human stem cell model of VCP-related ALS.
Cell Rep. 19:1739-1749(2017)

Cross-references
Cell line databases/resources hPSCreg; UCLi010-B
Biological sample resources BioSamples; SAMEA4675630
Encyclopedic resources Wikidata; Q54989681
Entry history
Entry creation14-May-2018
Last entry update29-Jun-2023
Version number12