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Cellosaurus PI-1754-MIT (CVCL_RK98)

[Text version]
Cell line name PI-1754-MIT
Synonyms SNCA-Tri-C2; SNCA_Tri-C2
Accession CVCL_RK98
Resource Identification Initiative To cite this cell line use: PI-1754-MIT (RRID:CVCL_RK98)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Gene amplification; HGNC; HGNC:11138; SNCA; Triplication; Zygosity=Unspecified (PubMed=26610207).
Disease Parkinson disease 4, autosomal dominant (NCIt: C198604)
Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_RK97 ! PI-1754-C7
Sex of cell Male
Age at sampling 42Y
Category Induced pluripotent stem cell
Publications

PubMed=26610207; DOI=10.1038/cddis.2015.318; PMCID=PMC4670926
Luis M.A. Oliveira, Lisandro J. Falomir-Lockhart, Michelle Gralle Botelho, Kun-Han Lin, Pauline Wales, Jan C. Koch, Ellen Gerhardt, Holger Taschenberger, Tiago Fleming Outeiro, Paul Lingor, Birgitt Schule ...Show all 13 authors... , Donna J. Arndt-Jovin, Thomas M. Jovin; Show fewer authors
Elevated alpha-synuclein caused by SNCA gene triplication impairs neuronal differentiation and maturation in Parkinson's patient-derived induced pluripotent stem cells.
Cell Death Dis. 6:e1994.1-e1994.13(2015)

Cross-references
Encyclopedic resources Wikidata; Q54947377
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number11