Cellosaurus cell line EURACi014-A (CVCL

Cross-references
Cell line name	EURACi014-A
Synonyms	iPS 1.1; iPS-1.1
Accession	CVCL_C0FA
Resource Identification Initiative	To cite this cell line use: EURACi014-A (RRID:CVCL_C0FA)
Comments	From: EURAC Research Institute for Biomedicine; Bolzano; Italy. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:11138; SNCA; Simple; p.Ala53Thr (c.157G>A); ClinVar=VCV000014007; Zygosity=Heterozygous (PubMed=35189566).
Disease	Parkinson disease 1, autosomal dominant (NCIt: C198602) Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	Age unspecified
Category	Induced pluripotent stem cell
Publications	PubMed=35189566; DOI=10.1016/j.scr.2022.102713 Gilmozzi V., Gentile G., Riekschnitz D.A., Volpato C.B., Di Segni M., Silipigni R., Pramstaller P.P., Hicks A.A., Pichler I., Zanon A. Generation of an induced pluripotent stem cell line (EURACi014-A) from a Parkinson's disease patient with an A53T mutation in the SNCA gene by an integration-free reprogramming method. Stem Cell Res. 60:102713-102713(2022)
Cell line databases/resources	hPSCreg; EURACi014-A
Encyclopedic resources	Wikidata; Q112929548
Entry history
Entry creation	23-Jun-2022
Last entry update	19-Dec-2024
Version number	5