Cellosaurus cell line L1-1Mut (CVCL

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 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_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.-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; MPIi002-A
SKIP; SKIP000290

Biological sample resources

BioSamples; SAMEA104382070

Encyclopedic resources

Wikidata; Q54900928

Entry history

Entry creation

16-Apr-2014

Last entry update

19-Dec-2024

Version number