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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
Sposito T., Preza E., Mahoney C.J., Seto-Salvia N., Ryan N.S., Morris H.R., Arber C., Devine M.J., Houlden H., Warner T.T., Bushell T.J., Zagnoni M., Kunath T., Livesey F.J., Fox N.C., Rossor M.N., Hardy J., Wray S.
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