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Cellosaurus FTD2E1 (CVCL_RH62)

[Text version]
Cell line name FTD2E1
Synonyms FTLD-Tau1
Accession CVCL_RH62
Resource Identification Initiative To cite this cell line use: FTD2E1 (RRID:CVCL_RH62)
Comments Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:6893; MAPT; Simple; c.1920+14C>T (c.2091+14C>T) (c.1866+14C>T) (c.915+14C>T) (c.828+14C>T) (IVS10+14C>T); ClinVar=VCV000014248; Zygosity=Unspecified (PubMed=27721502).
Disease Frontotemporal dementia (NCIt: C84719)
Behavioral variant of frontotemporal dementia (ORDO: Orphanet_275864)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_RH63 (FTD2E1 corrected 36-20)
Sex of cell Female
Age at sampling 52Y
Category Induced pluripotent stem cell
Publications

PubMed=27721502; DOI=10.1038/srep34904; PMCID=PMC5056519
Imamura K., Sahara N., Kanaan N.M., Tsukita K., Kondo T., Kutoku Y., Ohsawa Y., Sunada Y., Kawakami K., Hotta A., Yawata S., Watanabe D., Hasegawa M., Trojanowski J.Q., Lee V.M.-Y., Suhara T., Higuchi M., Inoue H.
Calcium dysregulation contributes to neurodegeneration in FTLD patient iPSC-derived neurons.
Sci. Rep. 6:34904-34904(2016)

Cross-references
Cell line databases/resources SKIP; SKIP001265
Encyclopedic resources Wikidata; Q54835220
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number8