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Cellosaurus AKOSi003-A (CVCL_YB82)

[Text version]
Cell line name AKOSi003-A
Synonyms iPS F0101990-1; iPS 003-A
Accession CVCL_YB82
Resource Identification Initiative To cite this cell line use: AKOSi003-A (RRID:CVCL_YB82)
Comments From: Albrecht-Kossel Institute for Neuroregeneration, University Medicine Rostock; Rostock; Germany.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 870; ATP7B; Simple; p.Met769Val (c.2305A>G); ClinVar=VCV000035706; Zygosity=Homozygous (PubMed=32028086).
Disease Hepatolenticular degeneration (NCIt: C84756)
Wilson disease (ORDO: Orphanet_905)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling Age unspecified
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; AKOSi003-A
Encyclopedic resources Wikidata; Q93324069
Entry history
Entry creation19-Dec-2019
Last entry update29-Jun-2023
Version number9