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Cellosaurus UCSCi001-A (CVCL_A8ZZ)

[Text version]

Cell line name UCSCi001-A
Synonyms SII-1802; SII-1802 cl. R
Accession CVCL_A8ZZ
Resource Identification Initiative To cite this cell line use: UCSCi001-A (RRID:CVCL_A8ZZ)
Comments From: Universita Cattolica del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli; Roma; Italy.
Population: Caucasian; Italian.
Omics: Array-based CGH.
Derived from sampling site: Leg; skin; dermis.
Sequence variations Mutation; HGNC; 4010; FUS; Simple; p.Arg518Ile (c.1553G>T); Zygosity=Heterozygous (PubMed=34303285).
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 Male
Age at sampling 31Y
Category Induced pluripotent stem cell
Publications

PubMed=34303285; DOI=10.1016/j.scr.2021.102461
Martello F., Lattante S., Doronzio P.N., Conte A., Bisogni G., Orteschi D., Pirozzi F., Sabatelli M., Zollino M., Marangi G.
Generation of an induced pluripotent stem cell line (UCSCi001-A) from a patient with early-onset amyotrophic lateral sclerosis carrying a FUS variant.
Stem Cell Res. 55:102461-102461(2021)

Cross-references
Cell line databases/resources hPSCreg; UCSCi001-A
Biological sample resources BioSamples; SAMEA9197919
Encyclopedic resources Wikidata; Q108821426
Entry history
Entry creation23-Sep-2021
Last entry update16-Dec-2021
Version number2