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Cellosaurus MK144 (CVCL_A8Y4)

[Text version]

Cell line name MK144
Accession CVCL_A8Y4
Resource Identification Initiative To cite this cell line use: MK144 (RRID:CVCL_A8Y4)
Comments Omics: Transcriptome analysis.
Derived from sampling site: Skin; dermis. Cell type=Fibroblast.
Sequence variations
  • Mutation; HGNC; 18618; LRRK2; Simple; p.Gly2019Ser (c.6055G>A); ClinVar=VCV000001940; Zygosity=Heterozygous (PubMed=28096185).
Disease Parkinson's disease (NCIt: C26845)
Hereditary late-onset Parkinson disease (ORDO: Orphanet_411602)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_LE40 (UOXFi008-A )CVCL_LE41 (UOXFi008-B )CVCL_LE42 (UOXFi008-C )
Sex of cell Female
Age at sampling 57Y
Category Finite cell line
Publications

PubMed=28096185; DOI=10.1093/hmg/ddw412
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; Q102114541
Gene expression databases GEO; GSM2055807
Entry history
Entry creation29-Oct-2020
Last entry update17-Mar-2022
Version number4