Cellosaurus cell line UOXFi008-B (CVCL

Cellosaurus UOXFi008-B (CVCL_LE41)

Cross-references
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; 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)
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 creation	22-Aug-2017
Last entry update	19-Dec-2024
Version number	15