ID   PA1
AC   CVCL_T887
DR   SKIP; SKIP000521
DR   Wikidata; Q54937345
RX   PubMed=23039195;
CC   Sequence variation: Mutation; HGNC; HGNC:8607; PRKN; Unexplicit; Ex2-4del; 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)
OI   CVCL_T885 ! PA9
OI   CVCL_T886 ! PA22
SX   Female
AG   72Y
CA   Induced pluripotent stem cell
DT   Created: 03-02-14; Last updated: 19-12-24; Version: 11
//
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).
//