Cellosaurus cell line AKOSi002-A (CVCL

Cellosaurus AKOSi002-A (CVCL_YB81)

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 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; AKOSi002-A
Encyclopedic resources	Wikidata; Q93324067
Entry history
Entry creation	19-Dec-2019
Last entry update	19-Dec-2024
Version number	10