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Cellosaurus CHDIi049-A (CVCL_VD20)

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Cell line name CHDIi049-A
Synonyms #127c2; HD2197; CHDI-90002197
Accession CVCL_VD20
Resource Identification Initiative To cite this cell line use: CHDIi049-A (RRID:CVCL_VD20)
Comments From: CHDI Foundation; New York; USA.
Omics: Variations; Array-based CGH.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[44] (c.52CAG(44)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (EBiSC=CHDIi049-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 40-44Y
Category Induced pluripotent stem cell
Publications

PubMed=35805069; DOI=10.3390/cells11131984; PMCID=PMC9265327
Francisco Jose Molina-Ruiz, Clelia Introna, Georgina Bombau, Mireia Galofre, Josep Maria Canals;
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; CHDIi049-A
ECACC; 66541195 - Discontinued
Cell line databases/resources hPSCreg; CHDIi049-A
Biological sample resources BioSamples; SAMEA4675691
Encyclopedic resources Wikidata; Q54811817
Entry history
Entry creation14-May-2018
Last entry update10-Apr-2025
Version number14