ID   PB18
AC   CVCL_T883
DR   SKIP; SKIP000204
DR   Wikidata; Q54938347
RX   PubMed=23039195;
CC   Sequence variation: Mutation; HGNC; HGNC:8607; PRKN; Unexplicit; Ex6-7del; Zygosity=Homozygous (PubMed=23039195).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C198603; Parkinson disease 2, autosomal recessive juvenile
DI   ORDO; Orphanet_2828; Young-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_ZX89 ! PB(DF)
SX   Male
AG   50Y
CA   Induced pluripotent stem cell
DT   Created: 03-02-14; Last updated: 19-12-24; Version: 12
//
RX   PubMed=23039195; DOI=10.1186/1756-6606-5-35; PMCID=PMC3546866;
RA   Imaizumi Y., Okada Y., Akamatsu W., Koike M., Kuzumaki N.,
RA   Hayakawa H., Nihira T., Kobayashi T., Ohyama M., Sato S.,
RA   Takanashi M., Funayama M., Hirayama A., Soga T., Hishiki T.,
RA   Suematsu M., Yagi T., Ito D., Kosakai A., Hayashi K., Shouji M.,
RA   Nakanishi A., Suzuki N., Mizuno Y., Mizushima N., Amagai M.,
RA   Uchiyama Y., Mochizuki H., Hattori N., Okano H.;
RT   "Mitochondrial dysfunction associated with increased oxidative stress
RT   and alpha-synuclein accumulation in PARK2 iPSC-derived neurons and
RT   postmortem brain tissue.";
RL   Mol. Brain 5:35.1-35.13(2012).
//