Cellosaurus logo
expasy logo

Cellosaurus FFF-022 (CVCL_A9P7)

[Text version]
Cell line name FFF-022
Synonyms FFF0962009
Accession CVCL_A9P7
Resource Identification Initiative To cite this cell line use: FFF-022 (RRID:CVCL_A9P7)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 18618; LRRK2; Simple; p.Gly2019Ser (c.6055G>A); ClinVar=VCV000001940; Zygosity=Heterozygous (PubMed=22666358).
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_V157 (ESi061-A)
Sex of cell Male
Age at sampling 47Y
Category Finite cell line
Publications

PubMed=22666358; DOI=10.1371/journal.pone.0037467
Cartelli D., Goldwurm S., Casagrande F., Pezzoli G., Cappelletti G.
Microtubule destabilization is shared by genetic and idiopathic Parkinson's disease patient fibroblasts.
PLoS ONE 7:E37467-E37467(2012)

PubMed=23075850; DOI=10.1038/nature11557
Liu G.-H., Qu J., Suzuki K., Nivet E., Li M., Montserrat N., Yi F., Xu X.-L., Ruiz S., Zhang W.-Q., Wagner U., Kim A., Ren B., Li Y., Goebl A., Kim J., Soligalla R.D., Dubova I., Thompson J., Yates J.R. III, Esteban C.R., Sancho-Martinez I., Izpisua Belmonte J.C.
Progressive degeneration of human neural stem cells caused by pathogenic LRRK2.
Nature 491:603-607(2012)

Cross-references
Encyclopedic resources Wikidata; Q102113819
Entry history
Entry creation29-Oct-2020
Last entry update29-Jun-2023
Version number6