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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; 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
Bidollari E., Rotundo G., Altieri F., Amicucci M., Wiquel D., Ferrari D., Goldoni M., Bernardini L., Consoli F., De Luca A., Fanelli S., Lamorte G., D'Agruma L., Vescovi A.L., Squitieri F., Rosati J.D.
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 update29-Jun-2023
Version number8