Cellosaurus cell line DANi005-A (CVCL

Cross-references
Cell line name	DANi005-A
Synonyms	DANi-005A; LRRK2-GBA-005-C1
Accession	CVCL_XJ25
Resource Identification Initiative	To cite this cell line use: DANi005-A (RRID:CVCL_XJ25)
Comments	From: Danish Research Institute of Translational Neuroscience, Aarhus University; Aarhus; Denmark. Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Heterozygous (PubMed=31786474). Mutation; HGNC; HGNC:18618; LRRK2; Simple; p.Gly2019Ser (c.6055G>A); ClinVar=VCV000001940; Zygosity=Heterozygous (PubMed=31786474).
Disease	Parkinson disease 8, autosomal dominant (NCIt: C198605) Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	66Y
Category	Induced pluripotent stem cell
Publications	PubMed=31786474; DOI=10.1016/j.scr.2019.101657 Chen M.-W., Maimaitili M., Buchholdt S.H., Jensen U.B., Febbraro F., Denham M. Generation of eight human induced pluripotent stem cell lines from Parkinson's disease patients carrying familial mutations. Stem Cell Res. 42:101657-101657(2020)
Cell line databases/resources	hPSCreg; DANi005-A
Biological sample resources	BioSamples; SAMEA5912475
Encyclopedic resources	Wikidata; Q93503209
Entry history
Entry creation	19-Dec-2019
Last entry update	19-Dec-2024
Version number	9