ID   ND30171
AC   CVCL_DD47
DR   BioSample; SAMN00805545
DR   Coriell; ND30171
DR   NHCDR; ND30171
DR   Wikidata; Q54929329
RX   PubMed=25843045;
RX   PubMed=27191603;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:8607; PRKN; Simple; p.Arg42Pro (c.125G>C); ClinVar=VCV000644125; Zygosity=Heterozygous (PubMed=25843045).
CC   Sequence variation: Mutation; HGNC; HGNC:8607; PRKN; Unexplicit; Ex3del; Zygosity=Heterozygous (PubMed=25843045).
CC   Discontinued: Coriell; ND30171; 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,Y
ST   CSF1PO: 10,11
ST   D13S317: 11,12
ST   D16S539: 10,11
ST   D21S11: 28,32.2
ST   D5S818: 11,13
ST   D7S820: 9,11
ST   TH01: 8,9.3
ST   TPOX: 8
ST   vWA: 16,17
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_CH67 ! ND06284
SX   Male
AG   54Y
CA   Finite cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 15
//
RX   PubMed=25843045; DOI=10.1016/j.stemcr.2015.02.019; PMCID=PMC4437475;
RA   Shaltouki A., Sivapatham R., Pei Y., Gerencser A.A., Momcilovic O.,
RA   Rao M.S., Zeng X.-M.;
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 O., Sivapatham R., Oron T.R., Meyer M., Mooney S.,
RA   Rao M.S., Zeng X.-M.;
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-E0154890(2016).
//