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Cellosaurus CSSi006-A (CVCL_VD33)

[Text version]
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
Rotundo G., Bidollari E., Ferrari D., Spasari I., Bernardini L., Consoli F., De Luca A., Santimone I., Lamorte G., Migliore S., Squitieri F., Vescovi A.L., Rosati J.D.
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