Cellosaurus cell line ND31618 (CVCL_DD49)

• Mutation; HGNC; 8607; PRKN; Simple; p.Arg42Pro (c.125G>C); ClinVar=VCV000644125; Zygosity=Heterozygous (PubMed=22952635).
  

PubMed=22952635; DOI=10.1371/journal.pone.0043099
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.
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
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
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)