• Mutation; HGNC; HGNC:8607; PRKN; Simple; p.Arg275Trp (c.823C>T); ClinVar=VCV000007050; Zygosity=Heterozygous (PubMed=22952635).
  

PubMed=22952635; DOI=10.1371/journal.pone.0043099; PMCID=PMC3428297
Wray S., Self M., Lewis P.A., Taanman J.-W., Ryan N.S., Mahoney C.J., Liang Y.-Y., Devine M.J., Sheerin U.-M., Houlden H., Morris H.R., Healy D., Marti-Masso J.-F., Preza E., Barker S., Sutherland M., Corriveau R.A., D'Andrea M., Schapira A.H.V., Uitti R.J., Guttman M., Opala G., Jasinska-Myga B., Puschmann A., Nilsson C., Espay A.J., Slawek J., Gutmann L., Boeve B.F., Boylan K., Stoessl A.J., Ross O.A., Maragakis N.J., Van Gerpen J.A., Gerstenhaber M., Gwinn-Hardy K.A., Dawson T.M., Isacson O., Marder K.S., Clark L.N., Przedborski S.E., Finkbeiner S., Rothstein J.D., Wszolek Z.K., Rossor M.N., Hardy J.
NINDS ALS iPSC Consortium
NINDS Huntington's Disease iPSC Consortium
NINDS Parkinson's Disease iPSC Consortium
Creation of an open-access, mutation-defined fibroblast resource for neurological disease research.
PLoS ONE 7:E43099-E43099(2012)

PubMed=25843045; DOI=10.1016/j.stemcr.2015.02.019; PMCID=PMC4437475
Shaltouki A., Sivapatham R., Pei Y., Gerencser A.A., Momcilovic O., Rao M.S., Zeng X.-M.
Mitochondrial alterations by PARKIN in dopaminergic neurons using PARK2 patient-specific and PARK2 knockout isogenic iPSC lines.
Stem Cell Reports 4:847-859(2015)

PubMed=27191603; DOI=10.1371/journal.pone.0154890; PMCID=PMC4871453
Momcilovic O., Sivapatham R., Oron T.R., Meyer M., Mooney S., Rao M.S., Zeng X.-M.
Derivation, characterization, and neural differentiation of integration-free induced pluripotent stem cell lines from Parkinson's disease patients carrying SNCA, LRRK2, PARK2, and GBA mutations.
PLoS ONE 11:E0154890-E0154890(2016)

PubMed=35378365; DOI=10.1016/j.scr.2022.102765
Novak G., Finkbeiner S., Skibinski G., Bernini M., Donato C., Skupin A.
Generation of two human induced pluripotent stem cell lines from fibroblasts of Parkinson's disease patients carrying the ILE368ASN mutation in PINK1 (LCSBi002) and the R275W mutation in Parkin (LCSBI004).
Stem Cell Res. 61:102765-102765(2022)