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Cellosaurus CSSi002-A (CVCL_RV19)

[Text version]

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 sampling site: Skin. Cell type=Fibroblast.
Sequence variations
  • Mutation; 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
Rosati J., Bidollari E., Rotundo G., Ferrari D., Torres B., Bernardini L., Consoli F., De Luca A., Santimone I., Lamorte G., Squitieri F., Vescovi A.L.
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 update17-Mar-2022
Version number8