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Cellosaurus IB PD-P1 (CVCL_UM93)

[Text version]
Cell line name IB PD-P1
Synonyms PDP1 B51
Accession CVCL_UM93
Resource Identification Initiative To cite this cell line use: IB PD-P1 (RRID:CVCL_UM93)
Comments Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
From: Inbiomed; Gipuzkoa; Spain.
Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:14581; PINK1; Simple; c.1252_1488del; Zygosity=Heterozygous (PubMed=27975167).
  • Mutation; HGNC; HGNC:14581; PINK1; Simple; c.1488+1G>A; ClinVar=VCV000961640; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=27975167).
Disease Parkinson disease 6, early onset (NCIt: C184990)
Young-onset Parkinson disease (ORDO: Orphanet_2828)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling Adult
Category Induced pluripotent stem cell
Web pages Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/IB_PD-P1_PDP1_deposito.pdf
Provider; BNLC; -; https://www.isciii.es/documents/20119/880377/Anexo_IB_PDP1.pdf
Publications

PubMed=27975167; DOI=10.1007/s12035-016-0303-7; PMCID=PMC5808058
Garikoitz Azkona, Rakel Lopez de Maturana, Patricia del Rio, Amaya Sousa, Nerea Vazquez, Amaia Zubiarrain, Daniel Jimenez-Blasco, Juan P. Bolanos, Blas Morales, Georg Wolfgang Josef Auburger, Jose Matias Arbelo, Rosario Sanchez-Pernaute;
LRRK2 expression is deregulated in fibroblasts and neurons from Parkinson patients with mutations in PINK1.
Mol. Neurobiol. 55:506-516(2018)

Cross-references
Encyclopedic resources Wikidata; Q94312388
Entry history
Entry creation25-Feb-2019
Last entry update10-Apr-2025
Version number14