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Cellosaurus ICGi007-A (CVCL_UJ80)

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Cell line name ICGi007-A
Synonyms 47Q-3Lf
Accession CVCL_UJ80
Resource Identification Initiative To cite this cell line use: ICGi007-A (RRID:CVCL_UJ80)
Comments From: The Federal Research Center Institute of Cytology and Genetics; Novosibirsk; Russia.
Population: Caucasian.
Donor information: At sampling donor was not affected with Huntington disease but at significant risk (personal communication of Grigor'eva, Elena V. to hPSCreg).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[47] (c.52CAG(47)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=30658253).
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 27Y
Category Induced pluripotent stem cell
Publications

PubMed=30658253; DOI=10.1016/j.scr.2018.101382
Elena V. Grigor'eva, Tuyana B. Malankhanova, Aizhan Surumbayeva, Julia Mikhailovna Minina, Vitaly V. Morozov, Natalia Y. Abramycheva, Sergey N. Illarioshkin, Anastasia Aleksandrovna Malakhova, Suren Minasovich Zakian;
Generation of induced pluripotent stem cell line, ICGi007-A, by reprogramming peripheral blood mononuclear cells from a patient with Huntington's disease.
Stem Cell Res. 34:101382-101382(2019)

Cross-references
Cell line databases/resources hPSCreg; ICGi007-A
SKIP; SKIP005533
Biological sample resources BioSamples; SAMEA5275258
Encyclopedic resources Wikidata; Q94313418
Entry history
Entry creation25-Feb-2019
Last entry update19-Dec-2024
Version number13