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Cellosaurus CHDIi001-A (CVCL_VC72)

[Text version]

Cell line name CHDIi001-A
Synonyms #1C8; #1c8; CHDI-90002149
Accession CVCL_VC72
Resource Identification Initiative To cite this cell line use: CHDIi001-A (RRID:CVCL_VC72)
Comments From: CHDI Foundation; New York; USA.
Miscellaneous: At sampling donor was not affected with Huntington disease but at significant risk for disease.
Derived from sampling site: Fibroblast.
Sequence variations Mutation; HGNC; 4851; HTT; Repeat_expansion; p.Gln18[41] (c.52CAG(41)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (EBiSC).
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 45-49Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections EBiSC; CHDIi001-A
ECACC; 66541147
Cell line databases/resources hPSCreg; CHDIi001-A
Biological sample resources BioSamples; SAMEA1088030
Other Wikidata; Q54811762
Entry history
Entry creation14-May-2018
Last entry update20-May-2021
Version number6