Cellosaurus cell line ICGi020-A (CVCL

Cellosaurus ICGi020-A (CVCL_ZE00)

Cross-references
Cell line name	ICGi020-A
Synonyms	ATP7bIL23f
Accession	CVCL_ZE00
Resource Identification Initiative	To cite this cell line use: ICGi020-A (RRID:CVCL_ZE00)
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; 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_ZE01 ! ICGi020-B
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., Sivtsev 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)
Cell line databases/resources	hPSCreg; ICGi020-A
Biological sample resources	BioSamples; SAMEA6938907
Encyclopedic resources	Wikidata; Q98126761
Entry history
Entry creation	02-Jul-2020
Last entry update	19-Dec-2024
Version number	6