ID   GENEA017-HD
AC   CVCL_9026
SY   GENEA017; Genea017; SIVF017; SIVF017-HD; SIV017
DR   NIHhESC; NIHhESC-12-0166
DR   Wikidata; Q54835579
RX   PubMed=20649476;
RX   PubMed=25316320;
RX   PubMed=27346022;
WW   https://web.archive.org/web/20180912205435/http://geneabiocells.com/services/shelf-products/human-embryonic-stem-cells/
CC   From: Genea Biocells, Ltd; Sydney; Australia.
CC   Registration: NIH Human Embryonic Stem Cell Registry; NIHhESC-12-0166.
CC   Registration: UK Stem Cell Bank (UKSCB); Steering comm. appl. SCSC14-44.
CC   Sequence variation: Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[40] (c.52CAG(40)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Unspecified (Genea).
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
ST   Source(s): PubMed=27346022
ST   Amelogenin: X,Y
ST   CSF1PO: 12
ST   D13S317: 8,14
ST   D16S539: 11,12
ST   D18S51: 15,18
ST   D19S433: 14,15
ST   D21S11: 29
ST   D2S1338: 17,18
ST   D3S1358: 14,18
ST   D5S818: 12,13
ST   D7S820: 10,12
ST   D8S1179: 13,15
ST   FGA: 21,23
ST   TH01: 9
ST   TPOX: 8,11
ST   vWA: 15,18
DI   NCIt; C82342; Huntington's disease
DI   ORDO; Orphanet_399; Huntington disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 06-06-12; Last updated: 19-12-24; Version: 21
//
RX   PubMed=20649476; DOI=10.1089/scd.2010.0120;
RA   Bradley C.K., Scott H.A., Chami O., Peura T.T., Dumevska B.,
RA   Schmidt U., Stojanov T.;
RT   "Derivation of Huntington's disease-affected human embryonic stem cell
RT   lines.";
RL   Stem Cells Dev. 20:495-502(2011).
//
RX   PubMed=25316320; DOI=10.1021/pr500649m;
RA   McQuade L.R., Balachandran A., Scott H.A., Khaira S., Baker M.S.,
RA   Schmidt U.;
RT   "Proteomics of Huntington's disease-affected human embryonic stem
RT   cells reveals an evolving pathology involving mitochondrial
RT   dysfunction and metabolic disturbances.";
RL   J. Proteome Res. 13:5648-5659(2014).
//
RX   PubMed=27346022; DOI=10.1016/j.scr.2016.02.007;
RA   Dumevska B., McKernan R., Goel D., Schmidt U., Peura T.T.;
RT   "Derivation of Huntington disease affected Genea017 human embryonic
RT   stem cell line.";
RL   Stem Cell Res. 16:493-496(2016).
//