ID   WD39
AC   CVCL_Y528
DR   SKIP; SKIP000514
DR   Wikidata; Q54993689
RX   PubMed=23039195;
RX   PubMed=24389010;
RX   PubMed=24936452;
RX   PubMed=26056228;
RX   PubMed=28052261;
RX   PubMed=29179815;
RX   PubMed=30127392;
CC   Population: Japanese.
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   16Y
CA   Induced pluripotent stem cell
DT   Created: 07-11-14; Last updated: 29-06-23; Version: 8
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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=24389010; DOI=10.1016/j.neuron.2013.10.053;
RA   Bundo M., Toyoshima M., Okada Y., Akamatsu W., Ueda J.,
RA   Nemoto-Miyauchi T., Sunaga F., Toritsuka M., Ikawa D., Kakita A.,
RA   Kato M., Kasai K., Kishimoto T., Nawa H., Okano H., Yoshikawa T.,
RA   Kato T., Iwamoto K.;
RT   "Increased L1 retrotransposition in the neuronal genome in
RT   schizophrenia.";
RL   Neuron 81:306-313(2014).
//
RX   PubMed=24936452; DOI=10.1016/j.stemcr.2014.03.007; PMCID=PMC4050482;
RA   Numasawa-Kuroiwa Y., Okada Y., Shibata S., Kishi N., Akamatsu W.,
RA   Shoji M., Nakanishi A., Oyama M., Osaka H., Inoue K., Takahashi K.,
RA   Yamanaka S., Kosaki K., Takahashi T., Okano H.;
RT   "Involvement of ER stress in dysmyelination of Pelizaeus-Merzbacher
RT   disease with PLP1 missense mutations shown by iPSC-derived
RT   oligodendrocytes.";
RL   Stem Cell Reports 2:648-661(2014).
//
RX   PubMed=26056228; DOI=10.1093/hmg/ddv212;
RA   Ohta E., Nihira T., Uchino A., Imaizumi Y., Okada Y., Akamatsu W.,
RA   Takahashi K., Hayakawa H., Nagai M., Ohyama M., Ryo M., Ogino M.,
RA   Murayama S., Takashima A., Nishiyama K., Mizuno Y., Mochizuki H.,
RA   Obata F., Okano H.;
RT   "I2020T mutant LRRK2 iPSC-derived neurons in the Sagamihara family
RT   exhibit increased Tau phosphorylation through the AKT/GSK-3beta
RT   signaling pathway.";
RL   Hum. Mol. Genet. 24:4879-4900(2015).
//
RX   PubMed=28052261; DOI=10.1016/j.celrep.2016.12.020;
RA   Hosoya M., Fujioka M., Sone T., Okamoto S., Akamatsu W., Ukai H.,
RA   Ueda H.R., Ogawa K., Matsunaga T., Okano H.;
RT   "Cochlear cell modeling using disease-specific iPSCs unveils a
RT   degenerative phenotype and suggests treatments for congenital
RT   progressive hearing loss.";
RL   Cell Rep. 18:68-81(2017).
//
RX   PubMed=29179815; DOI=10.7554/eLife.21114; PMCID=PMC5705211;
RA   Okuno H., Renault-Mihara F., Ohta S., Fukuda K., Kurosawa K.,
RA   Akamatsu W., Sanosaka T., Kohyama J., Hayashi K., Nakajima K.,
RA   Takahashi T., Wysocka J.K., Kosaki K., Okano H.;
RT   "CHARGE syndrome modeling using patient-iPSCs reveals defective
RT   migration of neural crest cells harboring CHD7 mutations.";
RL   eLife 6:e21114.1-e21114.26(2017).
//
RX   PubMed=30127392; DOI=10.1038/s41591-018-0140-5;
RA   Fujimori K., Ishikawa M., Otomo A., Atsuta N., Nakamura R.,
RA   Akiyama T., Hadano S., Aoki M., Saya H., Sobue G., Okano H.;
RT   "Modeling sporadic ALS in iPSC-derived motor neurons identifies a
RT   potential therapeutic agent.";
RL   Nat. Med. 24:1579-1589(2018).
//