Cellosaurus cell line H236 C6 (CVCL

Cellosaurus H236 C6 (CVCL_DQ58)

[Text version]

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.Arg406Trp (c.1216C>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
Rasmussen M.A., Hjermind L.E., Hasholt L.F., Waldemar G., Nielsen J.E., Clausen C., Hyttel P., Holst B.
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
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 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 creation

13-Jul-2016

Last entry update

19-Dec-2024

Version number