ID   UCLi003-A
AC   CVCL_9S56
SY   TSM(Exon10+16)V97
DR   BioSamples; SAMEA3174519
DR   EBiSC; UCLi003-A
DR   ECACC; 66540027
DR   hPSCreg; UCLi003-A
DR   SKIP; SKIP002676
DR   Wikidata; Q54989668
RX   PubMed=26136155;
CC   From: University College London; London; United Kingdom.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 6893; MAPT; Simple; c.1866+16C>T (IVS10+16C>T) (c.915+16C>T) (g.123819C>T); ClinVar=VCV000098222; Zygosity=Unspecified (EBiSC=UCLi003-A).
CC   Discontinued: ECACC; 66540027; true.
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84719; Frontotemporal dementia
DI   ORDO; Orphanet_275864; Behavioral variant of frontotemporal dementia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_A9Q6 ! UCLi003-B
SX   Female
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 23-02-16; Last updated: 30-01-24; Version: 13
//
RX   PubMed=26136155; DOI=10.1093/hmg/ddv246;
RA   Sposito T., Preza E., Mahoney C.J., Seto-Salvia N., Ryan N.S.,
RA   Morris H.R., Arber C., Devine M.J., Houlden H., Warner T.T.,
RA   Bushell T.J., Zagnoni M., Kunath T., Livesey F.J., Fox N.C.,
RA   Rossor M.N., Hardy J., Wray S.;
RT   "Developmental regulation of Tau splicing is disrupted in stem
RT   cell-derived neurons from frontotemporal dementia patients with the 10
RT   + 16 splice-site mutation in MAPT.";
RL   Hum. Mol. Genet. 24:5260-5269(2015).
//