Cellosaurus cell line UCLi003-B (CVCL

Cellosaurus UCLi003-B (CVCL_A9Q6)

Cross-references
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; 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 (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; 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)
Cell line databases/resources	hPSCreg; UCLi003-B
Encyclopedic resources	Wikidata; Q102115051
Entry history
Entry creation	29-Oct-2020
Last entry update	19-Dec-2024
Version number	9