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Cellosaurus UOXFi008-B (CVCL_LE41)

[Text version]
Cell line name UOXFi008-B
Synonyms MK144-7; iPS-MK144-7
Accession CVCL_LE41
Resource Identification Initiative To cite this cell line use: UOXFi008-B (RRID:CVCL_LE41)
Comments From: University of Oxford; Oxford; United Kingdom.
Omics: Genome sequenced.
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_A8Y4 (MK144)
Sex of cell Female
Age at sampling 57Y
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
Cell line collections (Providers) EBiSC; UOXFi008-B
ECACC; 66540551 - Discontinued
Cell line databases/resources hPSCreg; UOXFi008-B
Biological sample resources BioSamples; SAMEA103887561
Encyclopedic resources Wikidata; Q54991460
Gene expression databases GEO; GSM2055808
GEO; GSM2055814
Sequence databases EGA; EGAS00001002755
Entry history
Entry creation22-Aug-2017
Last entry update30-Jan-2024
Version number14