Cellosaurus logo
expasy logo

Cellosaurus H236 C6 (CVCL_DQ58)

[Text][XML][JSON]
Cell line name H236 C6
Synonyms H236 clone 6
Accession CVCL_DQ58
Resource Identification Initiative To cite this cell line use: H236 C6 (RRID:CVCL_DQ58)
Comments From: Bioneer A/S; Horsholm; Denmark.
Donor information: At sampling donor was pre-symptomatic for frontotemporal dementia.
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=27345791).
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_A4GA (H236 C6 GC)
Sex of cell Female
Age at sampling 28Y
Category Induced pluripotent stem cell
Publications

PubMed=27345791; DOI=10.1016/j.scr.2015.12.012
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 pre-symptomatic carrier of a R406W mutation in microtubule-associated protein tau (MAPT) causing frontotemporal dementia.
Stem Cell Res. 16:105-109(2016)

PubMed=27934590; DOI=10.1016/j.scr.2016.09.024
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 pre-symptomatic 28-year-old woman with an R406W mutation in the microtubule associated protein Tau (MAPT) gene.
Stem Cell Res. 17:600-602(2016)

Cross-references
Cell line databases/resources SKIP; SKIP003199
Encyclopedic resources Wikidata; Q54872022
Entry history
Entry creation13-Jul-2016
Last entry update27-Nov-2025
Version number17