Cellosaurus cell line ICGi030-A (CVCL

Cellosaurus ICGi030-A (CVCL_A0VT)

Cross-references
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; HGNC:870; ATP7B; Simple; p.Lys1013Glnfs*15 (c.3036dupC); ClinVar=VCV000495410; Zygosity=Heterozygous (PubMed=34736038). Mutation; HGNC; 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)
Cell line databases/resources	hPSCreg; ICGi030-A
Biological sample resources	BioSamples; SAMEA9273287
Encyclopedic resources	Wikidata; Q108820526
Entry history
Entry creation	23-Sep-2021
Last entry update	19-Dec-2024
Version number	6