ID   ND29756
AC   CVCL_DD54
DR   BioSample; SAMN00805489
DR   Coriell; ND29756
DR   Wikidata; Q54929274
RX   PubMed=22952635;
RX   PubMed=27191603;
CC   Sequence variation: Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Asn409Ser (c.1226A>G) (N370S); ClinVar=VCV000004290; Zygosity=Unspecified (PubMed=22952635).
CC   Discontinued: Coriell; ND29756; probable.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C26845; Parkinson's disease
DI   ORDO; Orphanet_411602; Hereditary late-onset Parkinson disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_CN35 ! ND14143
SX   Female
AG   55Y
CA   Finite cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 18
//
RX   PubMed=22952635; DOI=10.1371/journal.pone.0043099; PMCID=PMC3428297;
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.;
RG   NINDS ALS iPSC Consortium;
RG   NINDS Huntington's Disease iPSC Consortium;
RG   NINDS Parkinson's Disease iPSC Consortium;
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; PMCID=PMC4871453;
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).
//