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Cellosaurus iPS-JR036-1 (CVCL_A8Y6)

[Text version]
Cell line name iPS-JR036-1
Synonyms JR036 LRRK2 G2019S iPSc clone 1
Accession CVCL_A8Y6
Resource Identification Initiative To cite this cell line use: iPS-JR036-1 (RRID:CVCL_A8Y6)
Comments Omics: Transcriptome analysis by microarray.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
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=28096185).
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 Parent: CVCL_A8Y5 (JR036)
Sex of cell Male
Age at sampling 50Y
Category Induced pluripotent stem cell
Publications

PubMed=28096185; DOI=10.1093/hmg/ddw412; PMCID=PMC5409122
Sandor C., Robertson P., Lang C., Heger A., Booth H., Vowles J., Witty L., Bowden R., Hu M.T., Cowley S.A., Wade-Martins R., Webber C.
Transcriptomic profiling of purified patient-derived dopamine neurons identifies convergent perturbations and therapeutics for Parkinson's disease.
Hum. Mol. Genet. 26:552-566(2017)

Cross-references
Encyclopedic resources Wikidata; Q102114241
Gene expression databases GEO; GSM2055812
GEO; GSM2055816
Entry history
Entry creation29-Oct-2020
Last entry update29-Jun-2023
Version number6