Cellosaurus cell line L2-2Mut (CVCL

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; 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

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
SKIP; SKIP000298

Biological sample resources

BioSamples; SAMEA104382072

Encyclopedic resources

Wikidata; Q54900990

Entry history

Entry creation

16-Apr-2014

Last entry update

19-Dec-2024

Version number