Cellosaurus cell line AKOSi002-A (CVCL

Cross-references
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 site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:870; ATP7B; Simple; p.Glu1064Ala (c.3191A>C); ClinVar=VCV000370081; Zygosity=Heterozygous (PubMed=32028086). Mutation; HGNC; 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)
Cell line databases/resources	hPSCreg; AKOSi002-A
Encyclopedic resources	Wikidata; Q93324067
Entry history
Entry creation	19-Dec-2019
Last entry update	19-Dec-2024
Version number	10