• Gene amplification; HGNC; 11138; SNCA; Triplication; 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=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=34826737; DOI=10.1016/j.scr.2021.102600; PMCID=PMC9124237
Novak G., Finkbeiner S., Skibinski G., Skupin A.
Generation of two human induced pluripotent stem cell lines (iPSCs) with mutations of the alpha-synuclein (SNCA) gene associated with Parkinson's disease; the A53T mutation (LCSBi003) and a triplication of the SNCA gene (LCSBi007).
Stem Cell Res. 57:102600-102600(2021)