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Cellosaurus AKOSi002-A (CVCL_YB81)

[Text version]

Cell line name AKOSi002-A
Synonyms iPS GM05257-11; iPS 002-A
Accession CVCL_YB81
Resource Identification Initiative To cite this cell line use: AKOSi002-A (RRID:CVCL_YB81)
Comments From: Albrecht-Kossel Institute for Neuroregeneration, University Medicine Rostock; Rostock; Germany.
Population: Caucasian.
Derived from sampling site: Skin.
Sequence variations Mutation; HGNC; 870; ATP7B; Simple; p.Glu1064Ala (c.3191A>C); ClinVar=VCV000370081; Zygosity=Heterozygous (PubMed=32028086).
Mutation; HGNC; 870; ATP7B; Simple; p.His1069Gln (c.3207C>A); ClinVar=VCV000003848; Zygosity=Heterozygous (PubMed=32028086).
Disease Hepatolenticular degeneration (NCIt: C84756)
Wilson disease (ORDO: Orphanet_905)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_0P48 (GM05257)
Sex of cell Female
Age at sampling 34Y
Category Induced pluripotent stem cell
Publications

PubMed=32028086; DOI=10.1016/j.scr.2020.101708
Petters J., Cimmaruta C., Iwanov K., Chang M.L., Volkner C., Knuebel G., Murua Escobar H., Frech M.J., Hermann A., Rolfs A., Lukas J.
Generation of induced pluripotent stem cell lines AKOSi002-A and AKOSi003-A from symptomatic female adults with Wilson disease.
Stem Cell Res. 43:101708-101708(2020)

Cross-references
Cell line databases/resources hPSCreg; AKOSi002-A
Other Wikidata; Q93324067
Entry history
Entry creation19-Dec-2019
Last entry update20-May-2021
Version number6