ID   H224 C2
AC   CVCL_IK96
SY   H224 clone 2
DR   SKIP; SKIP003202
DR   Wikidata; Q54872019
RX   PubMed=27789411;
CC   From: Bioneer A/S; Horsholm; Denmark.
CC   Sequence variation: Mutation; HGNC; HGNC:6893; MAPT; Simple; p.Ser305Ile (c.914G>T) (S622I, c.1865G>T or S640I, c.1919G>T); ClinVar=VCV001256161; Zygosity=Heterozygous (PubMed=27789411).
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   44Y
CA   Induced pluripotent stem cell
DT   Created: 01-12-16; Last updated: 19-12-24; Version: 15
//
RX   PubMed=27789411; DOI=10.1016/j.scr.2016.10.006;
RA   Nimsanor N., Jorring I., Rasmussen M.A., Clausen C.,
RA   Mau-Holzmann U.A., Kitiyanant N., Nielsen J.E., Nielsen T.T.,
RA   Hyttel P., Holst B., Schmid B.;
RT   "Induced pluripotent stem cells (iPSCs) derived from a symptomatic
RT   carrier of a S305I mutation in the microtubule-associated protein tau
RT   (MAPT)-gene causing frontotemporal dementia.";
RL   Stem Cell Res. 17:564-567(2016).
//