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Cellosaurus UCLi003-B (CVCL_A9Q6)

[Text version]
Cell line name UCLi003-B
Synonyms TSM(10+16)V98
Accession CVCL_A9Q6
Resource Identification Initiative To cite this cell line use: UCLi003-B (RRID:CVCL_A9Q6)
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; 6893; MAPT; Simple; c.1866+16C>T (IVS10+16C>T) (c.915+16C>T) (g.123819C>T); ClinVar=VCV000098222; Zygosity=Unspecified (from autologous cell line 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_9S56 ! UCLi003-A
Sex of cell Female
Age at sampling Age unspecified
Category Induced pluripotent stem cell
Publications

PubMed=26136155; DOI=10.1093/hmg/ddv246
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 databases/resources hPSCreg; UCLi003-B
Encyclopedic resources Wikidata; Q102115051
Entry history
Entry creation29-Oct-2020
Last entry update29-Jun-2023
Version number8