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Cellosaurus L1-1Mut (CVCL_W597)

[Text version]

Cell line name L1-1Mut
Synonyms T4; MPIi002-A
Accession CVCL_W597
Resource Identification Initiative To cite this cell line use: L1-1Mut (RRID:CVCL_W597)
Comments From: Max Planck Institute for Molecular Biomedicine; Munster; Germany.
Derived from sampling site: Skin; dermis. Cell type=Fibroblast.
Sequence variations
  • Mutation; HGNC; 18618; LRRK2; Simple; p.Gly2019Ser (c.6055G>A); ClinVar=VCV000001940; Zygosity=Heterozygous (PubMed=23472874).
Disease Parkinson's disease (NCIt: C26845)
Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_W595 (L1-1GC1 )CVCL_W596 (L1-1GC2 )
Originate from same individual CVCL_W599 ! L1-2Mut
Sex of cell Female
Age at sampling 53-55Y
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., 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; MPIi002-A
SKIP; SKIP000290
Biological sample resources BioSamples; SAMEA104382070
Encyclopedic resources Wikidata; Q54900928
Entry history
Entry creation16-Apr-2014
Last entry update16-Dec-2021
Version number10