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Cellosaurus ICGi020-B (CVCL_ZE01)

[Text version]
Cell line name ICGi020-B
Synonyms ATP7bIL24f
Accession CVCL_ZE01
Resource Identification Initiative To cite this cell line use: ICGi020-B (RRID:CVCL_ZE01)
Comments From: The Federal Research Center Institute of Cytology and Genetics; Novosibirsk; Russia.
Population: Caucasian.
Miscellaneous: While Wilson disease is autosomal recessive no other ATP7B mutation was found in the donor of this cell line.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 870; ATP7B; Simple; p.His1069Gln (c.3207C>A); ClinVar=VCV000003848; Zygosity=Heterozygous (PubMed=32738633).
Disease Hepatolenticular degeneration (NCIt: C84756)
Wilson disease (ORDO: Orphanet_905)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_ZE00 ! ICGi020-A
Sex of cell Male
Age at sampling 16Y
Category Induced pluripotent stem cell
Publications

PubMed=32738633; DOI=10.1016/j.scr.2020.101922
Malakhova A.A., Grigor'eva E.V., Vasilyeva O.Y., Zhigalina D.I., Skryabin N.A., Sivtcev A.A., Kolesnikov N.A., Bueverov A.O., Lebedev I.N., Bogomolov P.O., Zakian S.M.
Generation of two induced pluripotent stem cell lines from peripheral blood mononuclear cells of a patient with Wilson's disease.
Stem Cell Res. 47:101922-101922(2020)

Cross-references
Cell line databases/resources hPSCreg; ICGi020-B
Biological sample resources BioSamples; SAMEA6983567
Encyclopedic resources Wikidata; Q98126762
Entry history
Entry creation02-Jul-2020
Last entry update29-Jun-2023
Version number5