Cellosaurus cell line AKOSi008-A (CVCL

Cross-references
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; 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)
Cell line databases/resources	hPSCreg; AKOSi008-A
Encyclopedic resources	Wikidata; Q105506401
Entry history
Entry creation	12-Jan-2021
Last entry update	19-Dec-2024
Version number	6