ID   PA22
AC   CVCL_T886
DR   SKIP; SKIP000207
DR   Wikidata; Q54937362
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_T887 ! PA1
OI   CVCL_T885 ! PA9
SX   Female
AG   72Y
CA   Induced pluripotent stem cell
DT   Created: 03-02-14; Last updated: 19-12-24; Version: 10
//
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).
//