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Cellosaurus ICGi030-A (CVCL_A0VT)

[Text version]
Cell line name ICGi030-A
Synonyms HF2
Accession CVCL_A0VT
Resource Identification Initiative To cite this cell line use: ICGi030-A (RRID:CVCL_A0VT)
Comments From: The Federal Research Center Institute of Cytology and Genetics; Novosibirsk; Russia.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 870; ATP7B; Simple; p.Lys1013Glnfs*15 (c.3036dupC); ClinVar=VCV000495410; Zygosity=Heterozygous (PubMed=34736038).
  • Mutation; HGNC; 870; ATP7B; Simple; p.His1069Gln (c.3207C>A); ClinVar=VCV000003848; Zygosity=Heterozygous (PubMed=34736038).
Disease Hepatolenticular degeneration (NCIt: C84756)
Wilson disease (ORDO: Orphanet_905)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 9Y
Category Induced pluripotent stem cell
Publications

PubMed=34736038; DOI=10.1016/j.scr.2021.102556
Zhigalina D.I., Malakhova A.A., Vasilyeva O.Y., Grigor'eva E.V., Sivtsev A.A., Kolesnikov N.A., Lopatkina M.E., Savchenko R.R., Zhalsanova I.Z., Postrigan' A.E., Zarubin A.A., Nikitina T.V., Bueverov A.O., Bogomolov P.O., Zakian S.M., Skryabin N.A.
Generation of an induced pluripotent stem cell line ICGi030-A from a Wilson's disease patient carrying a frameshift mutation p.Lys1013fs and missense mutation p.H1069Q in the ATP7B gene.
Stem Cell Res. 57:102556-102556(2021)

Cross-references
Cell line databases/resources hPSCreg; ICGi030-A
Biological sample resources BioSamples; SAMEA9273287
Encyclopedic resources Wikidata; Q108820526
Entry history
Entry creation23-Sep-2021
Last entry update29-Jun-2023
Version number5