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Cellosaurus CSSi004-A (CVCL_VD31)

[Text version]
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; 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
Bidollari E., Rotundo G., Ferrari D., Candido O., Bernardini L., Consoli F., De Luca A., Santimone I., Lamorte G., Ilari A., Squitieri F., Vescovi A.L., Rosati J.
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 update29-Jun-2023
Version number10