Cellosaurus logo
expasy logo

Cellosaurus H237 C3 (CVCL_DQ57)

[Text][XML][JSON]
Cell line name H237 C3
Synonyms H237 clone 3
Accession CVCL_DQ57
Resource Identification Initiative To cite this cell line use: H237 C3 (RRID:CVCL_DQ57)
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; p.Arg798Trp (c.2392C>T) (p.Arg406Trp, c.1216C>T or p.Arg723Trp, c.2167C>T); ClinVar=VCV000014247; Zygosity=Heterozygous (PubMed=27345789).
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_UM05 (H237 C3 GC)
Sex of cell Female
Age at sampling 59Y
Category Induced pluripotent stem cell
Publications

PubMed=27345789; DOI=10.1016/j.scr.2015.12.006
Mikkel Aabech Rasmussen, Lena Elisabeth Hjermind, Lis Frydenreich Hasholt, Gunhild Waldemar, Jorgen E. Nielsen, Christian Clausen, Poul Hyttel, Bjorn Holst;
Induced pluripotent stem cells (iPSCs) derived from a patient with frontotemporal dementia caused by a R406W mutation in microtubule-associated protein Tau (MAPT).
Stem Cell Res. 16:75-78(2016)

PubMed=27934586; DOI=10.1016/j.scr.2016.09.020
Natakarn Nimsanor, Ulla Bekker Poulsen, Mikkel Aabech Rasmussen, Christian Clausen, Ulrike A. Mau-Holzmann, Jorgen E. Nielsen, Troels T. Nielsen, Poul Hyttel, Bjorn Holst, Benjamin Schmid;
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; SKIP003198
Encyclopedic resources Wikidata; Q54872023
Entry history
Entry creation13-Jul-2016
Last entry update27-Nov-2025
Version number17