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Cellosaurus UCLi003-A (CVCL_9S56)

[Text version]
Cell line name UCLi003-A
Synonyms TSM(Exon10+16)V97
Accession CVCL_9S56
Resource Identification Initiative To cite this cell line use: UCLi003-A (RRID:CVCL_9S56)
Comments From: University College London; London; United Kingdom.
Population: Caucasian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:6893; MAPT; Simple; c.1920+16C>T (c.2091+16C>T) (c.1866+16C>T) (c.915+16C>T) (c.828+16C>T) (IVS10+16C>T); ClinVar=VCV000098222; Zygosity=Unspecified (EBiSC=UCLi003-A).
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_A9Q6 ! UCLi003-B
Sex of cell Female
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Publications

PubMed=26136155; DOI=10.1093/hmg/ddv246; PMCID=PMC4550814
Teresa Sposito, Elisavet Preza, Colin J. Mahoney, Nuria Seto-Salvia, Natalie S. Ryan, Huw R. Morris, Charles Arber, Michael J. Devine, Henry Houlden, Thomas T. Warner, Trevor John Bushell ...Show all 18 authors... , Michele Zagnoni, Tilo Kunath, Frederick John Livesey, Nick C. Fox, Martin Neil Rossor, John Hardy, Selina Wray; Show fewer authors
Developmental regulation of Tau splicing is disrupted in stem cell-derived neurons from frontotemporal dementia patients with the 10 + 16 splice-site mutation in MAPT.
Hum. Mol. Genet. 24:5260-5269(2015)

Cross-references
Cell line collections (Providers) EBiSC; UCLi003-A
ECACC; 66540027 - Discontinued
Cell line databases/resources hPSCreg; UCLi003-A
SKIP; SKIP002676
Biological sample resources BioSamples; SAMEA3174519
Encyclopedic resources Wikidata; Q54989668
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number14