ID   ND29543
AC   CVCL_Y811
DR   BioSample; SAMN00805467
DR   Coriell; ND29543
DR   NHCDR; ND29543
DR   Wikidata; Q54929243
RX   PubMed=22952635;
RX   PubMed=25843045;
RX   PubMed=27191603;
CC   Sequence variation: Mutation; HGNC; HGNC:8607; PRKN; Simple; p.Asn52Metfs*29 (c.155delA) (255delA); ClinVar=VCV000536457; Zygosity=Heterozygous (PubMed=22952635).
CC   Sequence variation: Mutation; HGNC; HGNC:8607; PRKN; Unexplicit; Ex3-4del; Zygosity=Heterozygous (PubMed=22952635).
CC   Discontinued: Coriell; ND29543; 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: 9,12
ST   D16S539: 11,12
ST   D21S11: 29
ST   D5S818: 11,12
ST   D7S820: 8,10
ST   TH01: 6,9.3
ST   TPOX: 8,10
ST   vWA: 14,17
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_Y810 ! ND07278
SX   Male
AG   50Y
CA   Finite cell line
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 18
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RX   PubMed=22952635; DOI=10.1371/journal.pone.0043099; PMCID=PMC3428297;
RA   Wray S., Self M., Lewis P.A., Taanman J.-W., Ryan N.S., Mahoney C.J.,
RA   Liang Y.-Y., Devine M.J., Sheerin U.-M., Houlden H., Morris H.R.,
RA   Healy D., Marti-Masso J.-F., Preza E., Barker S., Sutherland M.,
RA   Corriveau R.A., D'Andrea M., Schapira A.H.V., Uitti R.J., Guttman M.,
RA   Opala G., Jasinska-Myga B., Puschmann A., Nilsson C., Espay A.J.,
RA   Slawek J., Gutmann L., Boeve B.F., Boylan K., Stoessl A.J., Ross O.A.,
RA   Maragakis N.J., Van Gerpen J.A., Gerstenhaber M., Gwinn-Hardy K.A.,
RA   Dawson T.M., Isacson O., Marder K.S., Clark L.N., Przedborski S.E.,
RA   Finkbeiner S., Rothstein J.D., Wszolek Z.K., Rossor M.N., Hardy J.;
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-E43099(2012).
//
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).
//