ID   SAPi003-A
AC   CVCL_YI88
SY   ALS II (FUSR521C/WT) clone#34; ALS II, FUS-R521C/wt; ALS II-FUS-R521C/wt
DR   BioSamples; SAMEA6358471
DR   hPSCreg; SAPi003-A
DR   Wikidata; Q98129326
RX   PubMed=26035390;
RX   PubMed=27318155;
CC   From: Sapienza University of Rome; Rome; Italy.
CC   Sequence variation: Mutation; HGNC; 4010; FUS; Simple; p.Arg521Cys (c.1561C>T); ClinVar=VCV000016224; Zygosity=Heterozygous (PubMed=26035390; PubMed=27318155).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
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 (Human)
SX   Male
AG   39Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 8
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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).
//