ID   LB21
AC   CVCL_A1YE
SY   PARK8-LB21
DR   SKIP; SKIP000994
DR   Wikidata; Q105509854
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_A1YD ! LB16
SX   Female
AG   78Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 19-12-24; Version: 6
//
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).
//