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Cellosaurus CSSi008-A (CVCL_WK22)

[Text version]
Cell line name CSSi008-A
Synonyms CSSi008-A (4698); 4698; AT214-01-02
Accession CVCL_WK22
Resource Identification Initiative To cite this cell line use: CSSi008-A (RRID:CVCL_WK22)
Comments From: Fondazione Casa Sollievo della Sofferenza IRCCS; San Giovanni Rotondo; Italy.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:3033; ATN1; Repeat_expansion; CAG[65] (g.17267CAG[(54-68)]); ClinVar=VCV000590267; Zygosity=Heterozygous; Note=The non-expanded allele has CAG[13] (PubMed=31493762).
Disease Dentatorubral-pallidoluysian atrophy (NCIt: C122653)
Dentatorubral pallidoluysian atrophy (ORDO: Orphanet_101)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 21Y
Category Induced pluripotent stem cell
Publications

PubMed=31493762; DOI=10.1016/j.scr.2019.101551
Eris Bidollari, Giovannina Rotundo, Filomena Altieri, Mariangela Amicucci, Daniele Wiquel, Daniela Ferrari, Marina Goldoni, Laura Bernardini, Federica Consoli, Alessandro De Luca, Sergio Fanelli ...Show all 16 authors... , Giuseppe Lamorte, Leonardo D'Agruma, Angelo Luigi Vescovi, Ferdinando Squitieri, Jessica Diana Rosati; Show fewer authors
Generation of induced pluripotent stem cell line CSSi008-A (4698) from a patient affected by advanced stage of Dentato-Rubral-Pallidoluysian atrophy (DRPLA).
Stem Cell Res. 40:101551-101551(2019)

Cross-references
Cell line databases/resources hPSCreg; CSSi008-A
Biological sample resources BioSamples; SAMEA5728485
Encyclopedic resources Wikidata; Q93459735
Entry history
Entry creation24-May-2019
Last entry update19-Dec-2024
Version number9