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; 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: 29-06-23; Version: 17
//
RX   PubMed=22952635; DOI=10.1371/journal.pone.0043099;
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.;
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;
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;
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).
//
RX   PubMed=35378365; DOI=10.1016/j.scr.2022.102765;
RA   Novak G., Finkbeiner S., Skibinski G., Bernini M., Donato C.,
RA   Skupin A.;
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).
//