ID   NIAi001-I
AC   CVCL_A8ZQ
SY   A18945 LRRK2 N1437H PL3D7; N1437H PL3D7
DR   hPSCreg; NIAi001-I
DR   Wikidata; Q108821037
RX   PubMed=34087985;
CC   From: Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health; Bethesda; USA.
CC   Sequence variation: Mutation; HGNC; HGNC:18618; LRRK2; Simple_edited; p.Asn1437His (c.4309A>C); ClinVar=VCV000039183; Zygosity=Homozygous; Note=By CRISPR/Cas9 (PubMed=34087985).
CC   Derived from site: In situ; Umbilical cord blood; UBERON=UBERON_0012168.
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_RM92 ! CBiPSC6.2
SX   Female
AG   <1D
CA   Induced pluripotent stem cell
DT   Created: 23-09-21; Last updated: 19-12-24; Version: 6
//
RX   PubMed=34087985; DOI=10.1016/j.scr.2021.102354; PMCID=PMC8314873;
RA   Beilina, Aleksandra
RA   Langston, Rebekah G.
RA   Rosen, Dorien
RA   Reed, Xylena
RA   Cookson, Mark R.
RT   "Generation of fourteen isogenic cell lines for Parkinson's
RT   disease-associated leucine-rich repeat kinase (LRRK2).";
RL   Stem Cell Res. 53:102354-102354(2021).
//