Cellosaurus cell line UCLi009-B (CVCL

Cellosaurus UCLi009-B (CVCL_VF14)

Cross-references
Cell line name	UCLi009-B
Synonyms	R155C 2; CB1E; MUT 2
Accession	CVCL_VF14
Resource Identification Initiative	To cite this cell line use: UCLi009-B (RRID:CVCL_VF14)
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; HGNC:12666; VCP; Simple; p.Arg155Cys (c.463C>T); ClinVar=VCV000008469; Zygosity=Heterozygous (PubMed=28360103).
Disease	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia (NCIt: C168754) Frontotemporal dementia with motor neuron disease (ORDO: Orphanet_275872)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_VF13 ! UCLi009-A
Sex of cell	Female
Age at sampling	43Y
Category	Induced pluripotent stem cell
Publications	PubMed=28360103; DOI=10.1074/jbc.M116.762898; PMCID=PMC5448124 Marthe H.R. Ludtmann, Charles Arber, Fernando Bartolome, Macarena de Vicente, Elisavet Preza, Eva Carro, Henry Houlden, Sonia Gandhi, Selina Wray, Andrey Yuriyevich Abramov; 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 Claire E. Hall, Zhi Yao, Minee Choi, Giulia Elisabetta Tyzack, Andrea Serio, Raphaelle Luisier, Jasmine Harley, Elisavet Preza, Charles Arber, Sarah J. Crisp, P. Marc D. Watson ...Show all 24 authors... , Dimitri Michael Kullmann, Andrey Yuriyevich Abramov, Selina Wray, Russell Burley, Samantha H.Y. Loh, L. Miguel Martins, Molly Morag Stevens, Nicholas M. Luscombe, Christopher R. Sibley, Andras Lakatos, Jernej Ule, Sonia Gandhi, Rickie Patani; Show fewer authors 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; UCLi009-B
Biological sample resources	BioSamples; SAMEA4675627
Encyclopedic resources	Wikidata; Q54989679
Entry history
Entry creation	14-May-2018
Last entry update	10-Apr-2025
Version number	13