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Cellosaurus CSSi004-A (CVCL_VD31)

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Cell line name CSSi004-A
Synonyms CSSi004-A (2962); 2962; HD256.05 cl1
Accession CVCL_VD31
Resource Identification Initiative To cite this cell line use: CSSi004-A (RRID:CVCL_VD31)
Comments From: Fondazione Casa Sollievo della Sofferenza IRCCS; San Giovanni Rotondo; Italy.
Population: Caucasian.
Donor information: At sampling donor was not affected with Huntington disease but at significant risk for disease.
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[43] (c.52CAG(43)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=29486399).
Disease Huntington's disease (NCIt: C82342)
Huntington disease (ORDO: Orphanet_399)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 28Y
Category Induced pluripotent stem cell
Publications

PubMed=29486399; DOI=10.1016/j.scr.2018.02.014
Eris Bidollari, Giovannina Rotundo, Daniela Ferrari, Ornella Candido, Laura Bernardini, Federica Consoli, Alessandro De Luca, Iolanda Santimone, Giuseppe Lamorte, Andrea Ilari, Ferdinando Squitieri ...Show all 13 authors... , Angelo Luigi Vescovi, Jessica Diana Rosati; Show fewer authors
Generation of induced pluripotent stem cell line, CSSi004-A (2962), from a patient diagnosed with Huntington's disease at the presymptomatic stage.
Stem Cell Res. 28:145-148(2018)

Cross-references
Cell line databases/resources hPSCreg; CSSi004-A
SKIP; SKIP003160
Biological sample resources BioSamples; SAMEA104622926
Encyclopedic resources Wikidata; Q54814682
Entry history
Entry creation14-May-2018
Last entry update19-Dec-2024
Version number11