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Cellosaurus L2-2GC (CVCL_W602)

[Text version]
Cell line name L2-2GC
Synonyms IM2GC; MPIi003-A-1
Accession CVCL_W602
Resource Identification Initiative To cite this cell line use: L2-2GC (RRID:CVCL_W602)
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; HGNC:18618; LRRK2; Simple_corrected; p.Gly2019Ser (c.6055G>A); ClinVar=VCV000001940; Zygosity=Heterozygous; Note=By ZFN (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 Parent: 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 hPSCreg; MPIi003-A-1
SKIP; SKIP000301
Biological sample resources BioSamples; SAMEA104383130
Encyclopedic resources Wikidata; Q54900989
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number13