ID   L2-2Mut
AC   CVCL_W603
SY   IM2; MPIi003-A
DR   BioSamples; SAMEA104382072
DR   hPSCreg; MPIi003-A
DR   SKIP; SKIP000298
DR   Wikidata; Q54900990
RX   PubMed=23472874;
CC   From: Max Planck Institute for Molecular Biomedicine; Munster; Germany.
CC   Sequence variation: Mutation; HGNC; HGNC:18618; LRRK2; Simple; p.Gly2019Ser (c.6055G>A); ClinVar=VCV000001940; Zygosity=Heterozygous (PubMed=23472874).
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_W601 ! L2-1Mut
OI   CVCL_W605 ! L2-3Mut
SX   Female
AG   80-82Y
CA   Induced pluripotent stem cell
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 13
//
RX   PubMed=23472874; DOI=10.1016/j.stem.2013.01.008;
RA   Reinhardt P., Schmid B., Burbulla L.F., Schondorf D.C., Wagner L.,
RA   Glatza M., Hoing S., Hargus G., Heck S.A., Dhingra A., Wu G.-M.,
RA   Muller S., Brockmann K., Kluba T., Maisel M., Kruger R., Berg D.,
RA   Tsytsyura Y., Thiel C.S., Psathaki O.E., Klingauf J., Kuhlmann T.,
RA   Klewin M., Muller H., Gasser T., Scholer H.R., Sterneckert J.;
RT   "Genetic correction of a LRRK2 mutation in human iPSCs links
RT   parkinsonian neurodegeneration to ERK-dependent changes in gene
RT   expression.";
RL   Cell Stem Cell 12:354-367(2013).
//