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Cellosaurus L2-2Mut (CVCL_W603)

[Text version]
Cell line name L2-2Mut
Synonyms IM2; MPIi003-A
Accession CVCL_W603
Resource Identification Initiative To cite this cell line use: L2-2Mut (RRID:CVCL_W603)
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_W602 (L2-2GC)
Originate from same individual CVCL_W601 ! L2-1Mut
CVCL_W605 ! L2-3Mut
Sex of cell Female
Age at sampling 80-82Y
Category Induced pluripotent stem cell

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)

Cell line databases/resources hPSCreg; MPIi003-A
SKIP; SKIP000298
Biological sample resources BioSamples; SAMEA104382072
Encyclopedic resources Wikidata; Q54900990
Entry history
Entry creation16-Apr-2014
Last entry update29-Jun-2023
Version number12