ID   ND29149
AC   CVCL_T849
DR   Coriell; ND29149
DR   NHCDR; ND29149
DR   Wikidata; Q54929204
RX   PubMed=22952635;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:11179; SOD1; Simple; p.Asp91Ala (c.272A>C) (D90A); ClinVar=VCV000014766; Zygosity=Unspecified (PubMed=22952635).
CC   Discontinued: Coriell; ND29149; true.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C168749; Amyotrophic lateral sclerosis 1
DI   ORDO; Orphanet_803; Amyotrophic lateral sclerosis
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   50Y
CA   Finite cell line
DT   Created: 03-02-14; Last updated: 19-12-24; Version: 19
//
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:e43099.1-e43099.8(2012).
//