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Cellosaurus SAPi002-A (CVCL_YI87)

[Text version]
Cell line name SAPi002-A
Synonyms ALS I (FUSR514S/WT) clone#1; ALS I; ALS I-FUS-R514S/wt; FUS-R514S/wt
Accession CVCL_YI87
Resource Identification Initiative To cite this cell line use: SAPi002-A (RRID:CVCL_YI87)
Comments From: Sapienza University of Rome; Rome; Italy.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 4010; FUS; Simple; p.Arg514Ser (c.1542G>T); Zygosity=Heterozygous (PubMed=26035390; PubMed=27318155).
Disease Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (NCIt: C168750)
Amyotrophic lateral sclerosis (ORDO: Orphanet_803)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 49Y
Category Induced pluripotent stem cell
Publications

PubMed=26035390; DOI=10.1242/dmm.020099
Lenzi J., De Santis R., de Turris V., Morlando M., Laneve P., Calvo A., Caliendo V., Chio A., Rosa A., Bozzoni I.
ALS mutant FUS proteins are recruited into stress granules in induced pluripotent stem cell-derived motoneurons.
Dis. Model. Mech. 8:755-766(2015)

PubMed=27318155; DOI=10.1016/j.scr.2016.06.003
Lenzi J., Pagani F., De Santis R., Limatola C., Bozzoni I., Di Angelantonio S., Rosa A.
Differentiation of control and ALS mutant human iPSCs into functional skeletal muscle cells, a tool for the study of neuromuscolar diseases.
Stem Cell Res. 17:140-147(2016)

Cross-references
Cell line databases/resources hPSCreg; SAPi002-A
Biological sample resources BioSamples; SAMEA6358469
Encyclopedic resources Wikidata; Q98129323
Entry history
Entry creation19-Dec-2019
Last entry update29-Jun-2023
Version number7