ID   H251 C3 GC
AC   CVCL_IK97
SY   H251 clone 3 GC
DR   Wikidata; Q54872026
RX   PubMed=27789409;
CC   From: Bioneer A/S; Horsholm; Denmark.
CC   Sequence variation: Mutation; HGNC; HGNC:6893; MAPT; Simple_corrected; p.Pro301Leu (c.902C>T) (P618L, c.1853C>T or P636L, c.1907C>T); ClinVar=VCV000014245; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=27789409).
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)
HI   CVCL_DQ56 ! H251 C3
SX   Female
AG   57Y
CA   Induced pluripotent stem cell
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 14
//
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).
//