ID   LA11
AC   CVCL_Y951
SY   PARK8-LA11; HPS0103
DR   SKIP; SKIP000992
DR   Wikidata; Q54901885
RX   PubMed=26056228;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:18618; LRRK2; Simple; p.Ile2020Thr (c.6059C>T); ClinVar=VCV000001941; Zygosity=Heterozygous (PubMed=26056228).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C198605; Parkinson disease 8, autosomal dominant
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_T963 ! LA3
OI   CVCL_Y949 ! LA5
OI   CVCL_Y950 ! LA8
SX   Female
AG   66Y
CA   Induced pluripotent stem cell
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 9
//
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).
//