ID   HD-iPShom 4F-2
AC   CVCL_W313
DR   Wikidata; Q54882093
RX   PubMed=22405424;
CC   Sequence variation: Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[42-44] (c.52CAG(42-44)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Homozygous (PubMed=22405424).
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_W310 ! HD-iPShom 3F-1
OI   CVCL_W311 ! HD-iPShom 3F-2
OI   CVCL_W312 ! HD-iPShom 4F-1
SX   Male
AG   59Y
CA   Induced pluripotent stem cell
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 10
//
RX   PubMed=22405424; DOI=10.1016/j.nbd.2011.12.042;
RA   Camnasio S., Delli Carri A., Lombardo A., Grad I., Mariotti C.,
RA   Castucci A., Rozell B., Lo Riso P., Castiglioni V., Zuccato C.,
RA   Rochon C., Takashima Y., Diaferia G.R., Biunno I., Gellera C.,
RA   Jaconi Devaud M.E.E., Smith A.G., Hovatta O., Naldini L., Di Donato S.,
RA   Feki A., Cattaneo E.;
RT   "The first reported generation of several induced pluripotent stem
RT   cell lines from homozygous and heterozygous Huntington's disease
RT   patients demonstrates mutation related enhanced lysosomal activity.";
RL   Neurobiol. Dis. 46:41-51(2012).
//