ID   ND29369
AC   CVCL_DD48
DR   BioSample; SAMN00805445
DR   Coriell; ND29369
DR   NHCDR; ND29369
DR   Wikidata; Q54929216
RX   PubMed=22952635;
RX   PubMed=25843045;
RX   PubMed=27191603;
RX   PubMed=35378365;
CC   Population: Latino or Hispanic; Dominican.
CC   Sequence variation: Mutation; HGNC; HGNC:8607; PRKN; Simple; p.Arg275Trp (c.823C>T); ClinVar=VCV000007050; Zygosity=Heterozygous (PubMed=22952635).
CC   Discontinued: Coriell; ND29369; true.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=27191603
ST   Amelogenin: X
ST   CSF1PO: 10
ST   D13S317: 11,12
ST   D16S539: 12,13
ST   D21S11: 29,30
ST   D5S818: 11
ST   D7S820: 10,11
ST   TH01: 8,9.3
ST   TPOX: 8,12
ST   vWA: 16
DI   NCIt; C198603; Parkinson disease 2, autosomal recessive juvenile
DI   ORDO; Orphanet_2828; Young-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_CL48 ! ND10504
SX   Female
AG   61Y
CA   Finite cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 18
CH   CVCL_DE33 ! B119-iPSC
CH   CVCL_A8LZ ! LCSBi004-A
CH   CVCL_A8MA ! LCSBi004-B
CH   CVCL_SA37 ! ND50095
//
RX   PubMed=22952635; DOI=10.1371/journal.pone.0043099; PMCID=PMC3428297;
RA   Wray, Selina
RA   Self, Matthew
RA   Lewis, Patrick A.
RA   Taanman, Jan-Willem
RA   Ryan, Natalie S.
RA   Mahoney, Colin J.
RA   Liang, Yu-Ying
RA   Devine, Michael J.
RA   Sheerin, Una-Marie
RA   Houlden, Henry
RA   Morris, Huw R.
RA   Healy, Daniel
RA   Marti-Masso, Jose-Felix
RA   Preza, Elisavet
RA   Barker, Suzanne
RA   Sutherland, Margaret
RA   Corriveau, Roderick A.
RA   D'Andrea, Michael
RA   Schapira, Anthony Henry Vernon
RA   Uitti, Ryan J.
RA   Guttman, Mark
RA   Opala, Grzegorz
RA   Jasinska-Myga, Barbara
RA   Puschmann, Andreas
RA   Nilsson, Christer
RA   Espay, Alberto J.
RA   Slawek, Jaroslaw
RA   Gutmann, Ludwig
RA   Boeve, Bradley F.
RA   Boylan, Kevin
RA   Stoessl, Alexander Jon
RA   Ross, Owen A.
RA   Maragakis, Nicholas John
RA   Van Gerpen, Jay Arthur
RA   Gerstenhaber, Melissa
RA   Gwinn-Hardy, Katrina Ann
RA   Dawson, Ted Murray
RA   Isacson, Ole
RA   Marder, Karen S.
RA   Clark, Lorraine N.
RA   Przedborski, Serge E.
RA   Finkbeiner, Steven
RA   Rothstein, Jeffrey D.
RA   Wszolek, Zbigniew Kudzin
RA   Rossor, Martin Neil
RA   Hardy, John
RG   NINDS ALS iPSC Consortium;
RG   NINDS Huntington's Disease iPSC Consortium;
RG   NINDS Parkinson's Disease iPSC Consortium;
RT   "Creation of an open-access, mutation-defined fibroblast resource for
RT   neurological disease research.";
RL   PLoS ONE 7:e43099.1-e43099.8(2012).
//
RX   PubMed=25843045; DOI=10.1016/j.stemcr.2015.02.019; PMCID=PMC4437475;
RA   Shaltouki, Atossa
RA   Sivapatham, Renuka
RA   Pei, Ying
RA   Gerencser, Akos A.
RA   Momcilovic, Olga
RA   Rao, Mahendra Surendra
RA   Zeng, Xian-Min
RT   "Mitochondrial alterations by PARKIN in dopaminergic neurons using
RT   PARK2 patient-specific and PARK2 knockout isogenic iPSC lines.";
RL   Stem Cell Reports 4:847-859(2015).
//
RX   PubMed=27191603; DOI=10.1371/journal.pone.0154890; PMCID=PMC4871453;
RA   Momcilovic, Olga
RA   Sivapatham, Renuka
RA   Oron, Tal Ronnen
RA   Meyer, Morten
RA   Mooney, Sean
RA   Rao, Mahendra Surendra
RA   Zeng, Xian-Min
RT   "Derivation, characterization, and neural differentiation of
RT   integration-free induced pluripotent stem cell lines from Parkinson's
RT   disease patients carrying SNCA, LRRK2, PARK2, and GBA mutations.";
RL   PLoS ONE 11:e0154890.1-e0154890.26(2016).
//
RX   PubMed=35378365; DOI=10.1016/j.scr.2022.102765;
RA   Novak, Gabriela
RA   Finkbeiner, Steven
RA   Skibinski, Gaia
RA   Bernini, Michela
RA   Donato, Cristina
RA   Skupin, Alexander
RT   "Generation of two human induced pluripotent stem cell lines from
RT   fibroblasts of Parkinson's disease patients carrying the ILE368ASN
RT   mutation in PINK1 (LCSBi002) and the R275W mutation in Parkin
RT   (LCSBI004).";
RL   Stem Cell Res. 61:102765-102765(2022).
//