ID   H236 C6
AC   CVCL_DQ58
SY   H236 clone 6
DR   SKIP; SKIP003199
DR   Wikidata; Q54872022
RX   PubMed=27345791;
RX   PubMed=27934590;
CC   From: Bioneer A/S; Horsholm; Denmark.
CC   Sequence variation: Mutation; HGNC; HGNC:6893; MAPT; Simple; p.Arg406Trp (c.1216C>T); ClinVar=VCV000014247; Zygosity=Heterozygous (PubMed=27345791).
CC   Donor information: At sampling donor was pre-symptomatic for frontotemporal dementia.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84719; Frontotemporal dementia
DI   ORDO; Orphanet_275864; Behavioral variant of frontotemporal dementia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   28Y
CA   Induced pluripotent stem cell
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 16
//
RX   PubMed=27345791; DOI=10.1016/j.scr.2015.12.012;
RA   Rasmussen M.A., Hjermind L.E., Hasholt L.F., Waldemar G.,
RA   Nielsen J.E., Clausen C., Hyttel P., Holst B.;
RT   "Induced pluripotent stem cells (iPSCs) derived from a pre-symptomatic
RT   carrier of a R406W mutation in microtubule-associated protein tau
RT   (MAPT) causing frontotemporal dementia.";
RL   Stem Cell Res. 16:105-109(2016).
//
RX   PubMed=27934590; DOI=10.1016/j.scr.2016.09.024;
RA   Nimsanor N., Poulsen U.B., Rasmussen M.A., Clausen C.,
RA   Mau-Holzmann U.A., Nielsen J.E., Nielsen T.T., Hyttel P., Holst B.,
RA   Schmid B.;
RT   "Generation of an isogenic, gene-corrected iPSC line from a
RT   pre-symptomatic 28-year-old woman with an R406W mutation in the
RT   microtubule associated protein Tau (MAPT) gene.";
RL   Stem Cell Res. 17:600-602(2016).
//