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Cellosaurus PB18 (CVCL_T883)

[Text version]
Cell line name PB18
Accession CVCL_T883
Resource Identification Initiative To cite this cell line use: PB18 (RRID:CVCL_T883)
Comments Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:8607; PRKN; Unexplicit; Ex6-7del; Zygosity=Homozygous (PubMed=23039195).
Disease Parkinson disease 2, autosomal recessive juvenile (NCIt: C198603)
Young-onset Parkinson disease (ORDO: Orphanet_2828)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_ZX89 (PB(DF))
Sex of cell Male
Age at sampling 50Y
Category Induced pluripotent stem cell
Publications

PubMed=23039195; DOI=10.1186/1756-6606-5-35; PMCID=PMC3546866
Imaizumi Y., Okada Y., Akamatsu W., Koike M., Kuzumaki N., Hayakawa H., Nihira T., Kobayashi T., Ohyama M., Sato S., Takanashi M., Funayama M., Hirayama A., Soga T., Hishiki T., Suematsu M., Yagi T., Ito D., Kosakai A., Hayashi K., Shouji M., Nakanishi A., Suzuki N., Mizuno Y., Mizushima N., Amagai M., Uchiyama Y., Mochizuki H., Hattori N., Okano H.
Mitochondrial dysfunction associated with increased oxidative stress and alpha-synuclein accumulation in PARK2 iPSC-derived neurons and postmortem brain tissue.
Mol. Brain 5:35.1-35.13(2012)

Cross-references
Cell line databases/resources SKIP; SKIP000204
Encyclopedic resources Wikidata; Q54938347
Entry history
Entry creation03-Feb-2014
Last entry update19-Dec-2024
Version number12