Cellosaurus logo
expasy logo

Cellosaurus L2-3Mut (CVCL_W605)

[Text version]
Cell line name L2-3Mut
Accession CVCL_W605
Resource Identification Initiative To cite this cell line use: L2-3Mut (RRID:CVCL_W605)
Comments From: Max Planck Institute for Molecular Biomedicine; Munster; Germany.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 18618; LRRK2; Simple; p.Gly2019Ser (c.6055G>A); ClinVar=VCV000001940; Zygosity=Heterozygous (PubMed=23472874).
Disease Parkinson disease 8, autosomal dominant (NCIt: C198605)
Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_W604 (L2-3GC)
Originate from same individual CVCL_W601 ! L2-1Mut
CVCL_W603 ! L2-2Mut
Sex of cell Female
Age at sampling 80-82Y
Category Induced pluripotent stem cell
Publications

PubMed=23472874; DOI=10.1016/j.stem.2013.01.008
Reinhardt P., Schmid B., Burbulla L.F., Schondorf D.C., Wagner L., Glatza M., Hoing S., Hargus G., Heck S.A., Dhingra A., Wu G.-M., Muller S., Brockmann K., Kluba T., Maisel M., Kruger R., Berg D., Tsytsyura Y., Thiel C.S., Psathaki O.E., Klingauf J., Kuhlmann T., Klewin M., Muller H., Gasser T., Scholer H.R., Sterneckert J.
Genetic correction of a LRRK2 mutation in human iPSCs links parkinsonian neurodegeneration to ERK-dependent changes in gene expression.
Cell Stem Cell 12:354-367(2013)

Cross-references
Cell line databases/resources SKIP; SKIP000299
Encyclopedic resources Wikidata; Q54900992
Entry history
Entry creation16-Apr-2014
Last entry update29-Jun-2023
Version number12