Cellosaurus cell line SP05.2 (CVCL

Cellosaurus SP05.2 (CVCL_RI49)

Cross-references
Cell line name	SP05.2
Accession	CVCL_RI49
Resource Identification Initiative	To cite this cell line use: SP05.2 (RRID:CVCL_RI49)
Comments	From: Institut de Bioenginyeria de Catalunya (IBEC); Barcelona; Spain. Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:18618; LRRK2; Simple; p.Gly2019Ser (c.6055G>A); ClinVar=VCV000001940; Zygosity=Heterozygous (PubMed=22407749).
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)
Originate from same individual	CVCL_RI48 ! SP05.1
Sex of cell	Male
Age at sampling	66Y
Category	Induced pluripotent stem cell
Publications	PubMed=22407749; DOI=10.1002/emmm.201200215; PMCID=PMC3403296 Adriana Sanchez-Danes, Yvonne Richaud-Patin, Iria Carballo-Carbajal, Senda Jimenez-Delgado, Carles Caig, Sergio Mora, Claudia Di Guglielmo, Mario Ezquerra, Bindiben Patel, Albert Giralt, Josep Maria Canals ...Show all 19 authors... , Maurizio Memo, Jordi Alberch, Jose Lopez-Barneo, Miquel Vila, Ana Maria Cuervo, Eduard Tolosa, Antonella Consiglio, Angel Raya; Show fewer authors Disease-specific phenotypes in dopamine neurons from human iPS-based models of genetic and sporadic Parkinson's disease. EMBO Mol. Med. 4:380-395(2012)
Cell line databases/resources	SKIP; SKIP000952
Encyclopedic resources	Wikidata; Q54955403
Entry history
Entry creation	05-Mar-2018
Last entry update	19-Dec-2024
Version number	11