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Cellosaurus SP13.2 (CVCL_RI63)

[Text version]
Cell line name SP13.2
Accession CVCL_RI63
Resource Identification Initiative To cite this cell line use: SP13.2 (RRID:CVCL_RI63)
Comments From: Institut de Bioenginyeria de Catalunya (IBEC); Barcelona; Spain.
Derived from site: In situ; Skin, epidermis; UBERON=UBERON_0001003.
Cell type: Keratinocyte; CL=CL_0000312.
Sequence variations
  • Mutation; 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_V203 ! SP13.4
Sex of cell Female
Age at sampling 68Y
Category Induced pluripotent stem cell
Publications

PubMed=22407749; DOI=10.1002/emmm.201200215; PMCID=PMC3403296
Sanchez-Danes A., Richaud-Patin Y., Carballo-Carbajal I., Jimenez-Delgado S., Caig C., Mora S., Di Guglielmo C., Ezquerra M., Patel B., Giralt A., Canals J.M., Memo M., Alberch J., Lopez-Barneo J., Vila M., Cuervo A.M., Tolosa E., Consiglio A., Raya A.
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)

Cross-references
Cell line databases/resources SKIP; SKIP000957
Encyclopedic resources Wikidata; Q54955424
Entry history
Entry creation05-Mar-2018
Last entry update29-Jun-2023
Version number10