Cellosaurus cell line UCLi010-B (CVCL

Cellosaurus UCLi010-B (CVCL_VF16)

Cross-references
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	Mutation; HGNC; 12666; VCP; Simple; p.Arg191Gln (c.572G>A); ClinVar=VCV000008473; Zygosity=Heterozygous (PubMed=28360103).
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; PMCID=PMC5448124 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; PMCID=PMC5464993 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)
Cell line databases/resources	hPSCreg; UCLi010-B
Biological sample resources	BioSamples; SAMEA4675630
Encyclopedic resources	Wikidata; Q54989681
Entry history
Entry creation	14-May-2018
Last entry update	29-Jun-2023
Version number	12