ID   PB20
AC   CVCL_T884
SY   iPS_PB20
DR   GEO; GSM2038550
DR   SKIP; SKIP000205
DR   Wikidata; Q54938348
RX   PubMed=23039195;
RX   PubMed=26905201;
CC   Sequence variation: Mutation; HGNC; HGNC:8607; PRKN; Unexplicit; Ex6-7del; Zygosity=Homozygous (PubMed=23039195).
CC   Omics: Transcriptome analysis by microarray.
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).
//
RX   PubMed=26905201; DOI=10.1016/j.stemcr.2016.01.010; PMCID=PMC4788773;
RA   Matsumoto T., Fujimori K., Andoh-Noda T., Ando T., Kuzumaki N.,
RA   Toyoshima M., Tada H., Imaizumi K., Ishikawa M., Yamaguchi R.,
RA   Isoda M., Zhou Z., Sato S., Kobayashi T., Ohtaka M., Nishimura K.,
RA   Kurosawa H., Yoshikawa T., Takahashi T., Nakanishi M., Ohyama M.,
RA   Hattori N., Akamatsu W., Okano H.;
RT   "Functional neurons generated from T cell-derived induced pluripotent
RT   stem cells for neurological disease modeling.";
RL   Stem Cell Reports 6:422-435(2016).
//