ID   IB PD-P1
AC   CVCL_UM93
SY   PDP1 B51
DR   Wikidata; Q94312388
RX   PubMed=27975167;
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/67/Caracteristicas%20-%20IB_PD-P1_PDP1_deposito.pdf
WW   https://www.isciii.es/QueHacemos/Servicios/BIOBANCOS/BNLC/Lists/Lneas%20iPS/Attachments/67/Anexo%20-%20Anexo_IB_PDP1.pdf
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Inbiomed; Gipuzkoa; Spain.
CC   Sequence variation: Mutation; HGNC; 14581; PINK1; Simple; c.1252_1488del; Zygosity=Heterozygous (PubMed=27975167).
CC   Sequence variation: Mutation; HGNC; 14581; PINK1; Simple; c.1488+1G>A; ClinVar=VCV000961640; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=27975167).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C184990; Parkinson disease 6, early onset
DI   ORDO; Orphanet_2828; Young-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Adult
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 29-06-23; Version: 12
//
RX   PubMed=27975167; DOI=10.1007/s12035-016-0303-7;
RA   Azkona G., Lopez de Maturana R., del Rio P., Sousa A., Vazquez N.,
RA   Zubiarrain A., Jimenez-Blasco D., Bolanos J.P., Morales B.,
RA   Auburger G., Arbelo J.M., Sanchez-Pernaute R.;
RT   "LRRK2 expression is deregulated in fibroblasts and neurons from
RT   Parkinson patients with mutations in PINK1.";
RL   Mol. Neurobiol. 55:506-516(2018).
//