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Cellosaurus AKOSi008-A (CVCL_A1VW)

[Text version]
Cell line name AKOSi008-A
Synonyms iPS D1-12; iPS 008-A
Accession CVCL_A1VW
Resource Identification Initiative To cite this cell line use: AKOSi008-A (RRID:CVCL_A1VW)
Comments From: Albrecht-Kossel Institute for Neuroregeneration, University Medicine Rostock; Rostock; Germany.
Population: Caucasian.
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.His1069Gln (c.3207C>A); ClinVar=VCV000003848; Zygosity=Homozygous (PubMed=33197697).
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 54Y
Category Induced pluripotent stem cell
Publications

PubMed=33197697; DOI=10.1016/j.scr.2020.102079
Petters J., Volkner C., Krohn S., Murua Escobar H., Bullerdiek J., Reuner U., Frech M.J., Hermann A., Lukas J.
Generation of two induced pluripotent stem cell lines from a female adult homozygous for the Wilson disease associated ATP7B variant p.H1069Q (AKOSi008-A) and a healthy control (AKOSi009-A).
Stem Cell Res. 49:102079-102079(2020)

Cross-references
Cell line databases/resources hPSCreg; AKOSi008-A
Encyclopedic resources Wikidata; Q105506401
Entry history
Entry creation12-Jan-2021
Last entry update29-Jun-2023
Version number5