ID   KEIUi001-A
AC   CVCL_A1YC
SY   LA5-GC TALEN
DR   hPSCreg; KEIUi001-A
DR   Wikidata; Q105509773
RX   PubMed=33181472;
CC   From: Keio University; Tokyo; Japan.
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 18618; LRRK2; Simple_corrected; p.Ile2020Thr (c.6059C>T); ClinVar=VCV000001941; Zygosity=Heterozygous; Note=By TALEN (PubMed=33181472).
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)
HI   CVCL_Y949 ! LA5
SX   Female
AG   66Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 29-06-23; Version: 5
//
RX   PubMed=33181472; DOI=10.1016/j.scr.2020.102073;
RA   Ohta E., Sone T., Ukai H., Hisamatsu T., Kitagawa T., Ishikawa M.,
RA   Nagai M., Ueda H.R., Obata F., Okano H.;
RT   "Generation of gene-corrected iPSCs line (KEIUi001-A) from a PARK8
RT   patient iPSCs with familial Parkinson's disease carrying the I2020T
RT   mutation in LRRK2.";
RL   Stem Cell Res. 49:102073-102073(2020).
//