Cellosaurus cell line L1-2Mut (CVCL

Cellosaurus L1-2Mut (CVCL_W599)

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Cell line name

L1-2Mut

Accession

CVCL_W599

Resource Identification Initiative

To cite this cell line use: L1-2Mut (RRID:CVCL_W599)

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; 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_W598 (L1-2GC)

Originate from same individual

CVCL_W597 ! L1-1Mut

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
Peter Reinhardt, Benjamin Schmid, Lena F. Burbulla, David C. Schondorf, Lydia Wagner, Michael Glatza, Susanne Hoing, Gunnar Hargus, Susanna A. Heck, Ashutosh Dhingra, Guang-Ming Wu ...Show all 27 authors... , Stephan Muller, Kathrin Brockmann, Torsten Kluba, Martina Maisel, Rejko Kruger, Daniela Berg, Yaroslav Tsytsyura, Cora Sandra Thiel, Olympia Ekaterini Psathaki, Jurgen Klingauf, Tanja Kuhlmann, Marlene Klewin, Heiko Muller, Thomas Gasser, Hans Robert Scholer, Jared Sterneckert; Show fewer authors
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; SKIP000292

Encyclopedic resources

Wikidata; Q54900930

Entry history

Entry creation

16-Apr-2014

Last entry update

19-Dec-2024

Version number