ID   ND30013
AC   CVCL_Y899
DR   Coriell; ND30013
DR   NHCDR; ND30013
DR   Wikidata; Q54929311
RX   PubMed=22952635;
RX   PubMed=30256717;
CC   Sequence variation: Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[43] (c.52CAG(43)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=22952635).
CC   Caution: Patient indicated as not affected with HD in HQ01808, but as affected in ND30013.
CC   Discontinued: Coriell; ND30013; true.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C82342; Huntington's disease
DI   ORDO; Orphanet_399; Huntington disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_3S77 ! HQ01808
SX   Male
AG   54Y
CA   Finite cell line
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 14
//
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).
//
RX   PubMed=30256717; DOI=10.1091/mbc.E18-09-0590; PMCID=PMC6249865;
RA   Hung C.L.-K., Maiuri T., Bowie L.E., Gotesman R., Son S., Falcone M.,
RA   Giordano J.V., Gillis T., Mattis V.B., Lau T., Kwan V., Wheeler V.C.,
RA   Schertzer J., Singh K., Truant R.;
RT   "A patient-derived cellular model for Huntington's disease reveals
RT   phenotypes at clinically relevant CAG lengths.";
RL   Mol. Biol. Cell 29:2809-2820(2018).
//