• Mutation; HGNC; HGNC:8607; PRKN; Unexplicit; Ex6-7del; Zygosity=Homozygous (PubMed=23039195).
  

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)

PubMed=26905201; DOI=10.1016/j.stemcr.2016.01.010; PMCID=PMC4788773
Matsumoto T., Fujimori K., Andoh-Noda T., Ando T., Kuzumaki N., Toyoshima M., Tada H., Imaizumi K., Ishikawa M., Yamaguchi R., Isoda M., Zhou Z., Sato S., Kobayashi T., Ohtaka M., Nishimura K., Kurosawa H., Yoshikawa T., Takahashi T., Nakanishi M., Ohyama M., Hattori N., Akamatsu W., Okano H.
Functional neurons generated from T cell-derived induced pluripotent stem cells for neurological disease modeling.
Stem Cell Reports 6:422-435(2016)