ID   ND27760
AC   CVCL_F204
DR   Coriell; ND27760
DR   NHCDR; ND27760
DR   Wikidata; Q54929071
RX   PubMed=22952635;
RX   PubMed=27191603;
RX   PubMed=34826737;
CC   Population: Caucasian.
CC   Sequence variation: Gene amplification; HGNC; 11138; SNCA; Triplication; Zygosity=Heterozygous (PubMed=22952635).
CC   Discontinued: Coriell; ND27760; true.
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=27191603
ST   Amelogenin: X
ST   CSF1PO: 12
ST   D13S317: 9,11
ST   D16S539: 11,12
ST   D21S11: 30,31.2
ST   D5S818: 11
ST   D7S820: 9,11
ST   TH01: 7,9.3
ST   TPOX: 8,11
ST   vWA: 15,18
DI   NCIt; C198604; Parkinson disease 4, autosomal dominant
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_L024 ! GM15844
OI   CVCL_F203 ! ND00139
SX   Female
AG   55Y
CA   Finite cell line
DT   Created: 22-10-12; Last updated: 29-06-23; Version: 20
//
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=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=34826737; DOI=10.1016/j.scr.2021.102600;
RA   Novak G., Finkbeiner S., Skibinski G., Skupin A.;
RT   "Generation of two human induced pluripotent stem cell lines (iPSCs)
RT   with mutations of the alpha-synuclein (SNCA) gene associated with
RT   Parkinson's disease; the A53T mutation (LCSBi003) and a triplication
RT   of the SNCA gene (LCSBi007).";
RL   Stem Cell Res. 57:102600-102600(2021).
//