ID   H251 C3
AC   CVCL_DQ56
SY   H251 clone 3
DR   SKIP; SKIP003200
DR   Wikidata; Q54872025
RX   PubMed=27345788;
RX   PubMed=27789409;
CC   From: Bioneer A/S; Horsholm; Denmark.
CC   Sequence variation: Mutation; HGNC; HGNC:6893; MAPT; Simple; p.Pro301Leu (c.902C>T) (P618L, c.1853C>T or P636L, c.1907C>T); ClinVar=VCV000014245; Zygosity=Heterozygous (PubMed=27345788).
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   57Y
CA   Induced pluripotent stem cell
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 16
//
RX   PubMed=27345788; DOI=10.1016/j.scr.2015.12.008;
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 patient with
RT   frontotemporal dementia caused by a P301L mutation in
RT   microtubule-associated protein Tau (MAPT).";
RL   Stem Cell Res. 16:70-74(2016).
//
RX   PubMed=27789409; DOI=10.1016/j.scr.2016.09.021;
RA   Nimsanor N., Kitiyanant 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   symptomatic 57-year-old female patient with frontotemporal dementia
RT   caused by a P301L mutation in the microtubule associated protein tau
RT   (MAPT) gene.";
RL   Stem Cell Res. 17:556-559(2016).
//