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Cellosaurus H237 C3 GC (CVCL_UM05)

[Text version]
Cell line name H237 C3 GC
Synonyms H237 clone 3 GC
Accession CVCL_UM05
Resource Identification Initiative To cite this cell line use: H237 C3 GC (RRID:CVCL_UM05)
Comments From: Bioneer A/S; Horsholm; Denmark.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:6893; MAPT; Simple_corrected; p.Arg406Trp (c.1216C>T); ClinVar=VCV000014247; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=27934586).
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_DQ57 (H237 C3)
Sex of cell Female
Age at sampling 59Y
Category Induced pluripotent stem cell
Publications

PubMed=27934586; DOI=10.1016/j.scr.2016.09.020
Nimsanor N., Poulsen U.B., Rasmussen M.A., Clausen C., Mau-Holzmann U.A., Nielsen J.E., Nielsen T.T., Hyttel P., Holst B., Schmid B.
Generation of an isogenic, gene-corrected iPSC line from a symptomatic 59-year-old female patient with frontotemporal dementia caused by an R406W mutation in the microtubule associated protein tau (MAPT) gene.
Stem Cell Res. 17:576-579(2016)

Cross-references
Cell line databases/resources SKIP; SKIP003201
Encyclopedic resources Wikidata; Q93936185
Entry history
Entry creation25-Feb-2019
Last entry update19-Dec-2024
Version number10