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Cellosaurus IB PD-P3 (CVCL_UM95)

[Text version]
Cell line name IB PD-P3
Synonyms PDP3 B3001
Accession CVCL_UM95
Resource Identification Initiative To cite this cell line use: IB PD-P3 (RRID:CVCL_UM95)
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; 14581; PINK1; Simple; c.1252_1488del; Zygosity=Heterozygous (PubMed=27975167).
  • Mutation; 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 Female
Age at sampling Adult
Category Induced pluripotent stem cell
Web pages https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/69/Caracteristicas%20-%20IB_PD-P3_PDP3_deposito.pdf

PubMed=27975167; DOI=10.1007/s12035-016-0303-7
Azkona G., Lopez de Maturana R., del Rio P., Sousa A., Vazquez N., Zubiarrain A., Jimenez-Blasco D., Bolanos J.P., Morales B., Auburger G., Arbelo J.M., Sanchez-Pernaute R.
LRRK2 expression is deregulated in fibroblasts and neurons from Parkinson patients with mutations in PINK1.
Mol. Neurobiol. 55:506-516(2018)

Encyclopedic resources Wikidata; Q94312397
Entry history
Entry creation25-Feb-2019
Last entry update29-Jun-2023
Version number12