Cellosaurus cell line AKOSi003-A (CVCL

Cross-references
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; 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 Janine Petters, Chiara Cimmaruta, Katharina Iwanov, Matthew L. Chang, Christin Volkner, Gudrun Knuebel, Hugo Murua Escobar, Moritz J. Frech, Andreas Hermann, Arndt Rolfs, Jan Lukas; 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)
Cell line databases/resources	hPSCreg; AKOSi003-A
Encyclopedic resources	Wikidata; Q93324069
Entry history
Entry creation	19-Dec-2019
Last entry update	19-Dec-2024
Version number	10