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Cellosaurus CSSi006-A (CVCL_VD33)

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Cell line name CSSi006-A
Synonyms CSSi006-A (3681); 3681
Accession CVCL_VD33
Resource Identification Initiative To cite this cell line use: CSSi006-A (RRID:CVCL_VD33)
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:4851; HTT; Repeat_expansion; p.Gln18[65] (c.52CAG(65)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=29704769).
Disease Juvenile Huntington disease (NCIt: C147072)
Juvenile Huntington disease (ORDO: Orphanet_248111)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 25Y
Category Induced pluripotent stem cell
Publications

PubMed=29704769; DOI=10.1016/j.scr.2018.04.008
Giovannina Rotundo, Eris Bidollari, Daniela Ferrari, Iolanda Spasari, Laura Bernardini, Federica Consoli, Alessandro De Luca, Iolanda Santimone, Giuseppe Lamorte, Simone Migliore, Ferdinando Squitieri ...Show all 13 authors... , Angelo Luigi Vescovi, Jessica Diana Rosati; Show fewer authors
Generation of the induced pluripotent stem cell line CSSi006-A (3681) from a patient affected by advanced-stage juvenile onset Huntington's disease.
Stem Cell Res. 29:174-178(2018)

Cross-references
Cell line databases/resources hPSCreg; CSSi006-A
Biological sample resources BioSamples; SAMEA4675569
Encyclopedic resources Wikidata; Q54814684
Entry history
Entry creation14-May-2018
Last entry update19-Dec-2024
Version number9