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Cellosaurus FTD2E1 corrected 36-20 (CVCL_RH63)

[Text version]
Cell line name FTD2E1 corrected 36-20
Synonyms FTLD-Tau1 corrected
Accession CVCL_RH63
Resource Identification Initiative To cite this cell line use: FTD2E1 corrected 36-20 (RRID:CVCL_RH63)
Comments Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:6893; MAPT; Simple_corrected; 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; Note=By CRISPR/Cas9 (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 Parent: CVCL_RH62 (FTD2E1)
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; SKIP001266
Encyclopedic resources Wikidata; Q54835221
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number9