ID   SAPi002-A
SY   ALS I (FUSR514S/WT) clone#1; ALS I; ALS I-FUS-R514S/wt; FUS-R514S/wt
DR   BioSamples; SAMEA6358469
DR   hPSCreg; SAPi002-A
DR   Wikidata; Q98129323
RX   PubMed=26035390;
RX   PubMed=27318155;
CC   From: Sapienza University of Rome; Rome; Italy.
CC   Sequence variation: Mutation; HGNC; 4010; FUS; Simple; p.Arg514Ser (c.1542G>T); Zygosity=Heterozygous (PubMed=26035390; PubMed=27318155).
CC   Derived from sampling site: Skin. Cell type=Fibroblast.
DI   NCIt; C168750; Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia
DI   ORDO; Orphanet_803; Amyotrophic lateral sclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens
SX   Female
AG   49Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 17-03-22; Version: 5
RX   PubMed=26035390; DOI=10.1242/dmm.020099;
RA   Lenzi J., De Santis R., de Turris V., Morlando M., Laneve P.,
RA   Calvo A., Caliendo V., Chio A., Rosa A., Bozzoni I.;
RT   "ALS mutant FUS proteins are recruited into stress granules in induced
RT   pluripotent stem cell-derived motoneurons.";
RL   Dis. Model. Mech. 8:755-766(2015).
RX   PubMed=27318155; DOI=10.1016/j.scr.2016.06.003;
RA   Lenzi J., Pagani F., De Santis R., Limatola C., Bozzoni I.,
RA   Di Angelantonio S., Rosa A.;
RT   "Differentiation of control and ALS mutant human iPSCs into functional
RT   skeletal muscle cells, a tool for the study of neuromuscolar
RT   diseases.";
RL   Stem Cell Res. 17:140-147(2016).