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Cellosaurus CSSi002-A (CVCL_RV19)

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Cell line name CSSi002-A
Synonyms CSSi002-A (2851); 2851; HD8yrs; HD 8 yrs
Accession CVCL_RV19
Resource Identification Initiative To cite this cell line use: CSSi002-A (RRID:CVCL_RV19)
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[~84] (c.52CAG(~84)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=29342448).
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 8Y
Category Induced pluripotent stem cell
Publications

PubMed=29342448; DOI=10.1016/j.scr.2018.01.011
Jessica Diana Rosati, Eris Bidollari, Giovannina Rotundo, Daniela Ferrari, Barbara Torres, Laura Bernardini, Federica Consoli, Alessandro De Luca, Iolanda Santimone, Giuseppe Lamorte, Ferdinando Squitieri, Angelo Luigi Vescovi;
Generation of induced pluripotent stem cell line, CSSi002-A (2851), from a patient with juvenile Huntington disease.
Stem Cell Res. 27:86-89(2018)

Cross-references
Cell line databases/resources hPSCreg; CSSi002-A
SKIP; SKIP002977
Biological sample resources BioSamples; SAMEA104620790
Encyclopedic resources Wikidata; Q54814680
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number11