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Cellosaurus CHDIi022-A (CVCL_VC93)

[Text version]
Cell line name CHDIi022-A
Synonyms #22c1; HD2170; CHDI-90002170
Accession CVCL_VC93
Resource Identification Initiative To cite this cell line use: CHDIi022-A (RRID:CVCL_VC93)
Comments From: CHDI Foundation; New York; USA.
Omics: Array-based CGH.
Donor information: At sampling donor was not affected with Huntington disease but at significant risk for disease.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 4851; HTT; Repeat_expansion; p.Gln18[46] (c.52CAG(46)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (EBiSC=CHDIi022-A).
Disease Huntington's disease (NCIt: C82342)
Huntington disease (ORDO: Orphanet_399)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 35-39Y
Category Induced pluripotent stem cell
Publications

PubMed=35805069; DOI=10.3390/cells11131984; PMCID=PMC9265327
Molina-Ruiz F.J., Introna C., Bombau G., Galofre M., Canals J.M.
Standardization of cell culture conditions and routine genomic screening under a quality management system leads to reduced genomic instability in hPSCs.
Cells 11:1984.1-1984.25(2022)

Cross-references
Cell line collections (Providers) EBiSC; CHDIi022-A
ECACC; 66541175 - Discontinued
Cell line databases/resources hPSCreg; CHDIi022-A
Biological sample resources BioSamples; SAMEA4675651
Encyclopedic resources Wikidata; Q54811788
Entry history
Entry creation14-May-2018
Last entry update30-Jan-2024
Version number12