ID   GENEA046-HD
AC   CVCL_9055
SY   GENEA046; Genea046; SIVF046; SIVF046-HD
DR   NIHhESC; NIHhESC-12-0180
DR   Wikidata; Q54835613
RX   PubMed=20649476;
RX   PubMed=25316320;
RX   PubMed=27346012;
WW   Provider; Genea; -; 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-12-0180.
CC   Registration: UK Stem Cell Bank (UKSCB); Steering comm. appl. SCSC14-46.
CC   Sequence variation: Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[45] (c.52CAG(45)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Unspecified (Genea).
CC   Omics: Proteomics.
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
ST   Source(s): PubMed=27346012
ST   Amelogenin: X
ST   CSF1PO: 10,11
ST   D13S317: 9,10
ST   D16S539: 11,12
ST   D18S51: 14,18
ST   D19S433: 13.2,14
ST   D21S11: 29,30
ST   D2S1338: 18,24
ST   D3S1358: 15,18
ST   D5S818: 11,12
ST   D7S820: 7,11
ST   D8S1179: 10,14
ST   FGA: 20,25
ST   TH01: 7,9.3
ST   TPOX: 8,11
ST   vWA: 14,17
DI   NCIt; C82342; Huntington's disease
DI   ORDO; Orphanet_399; Huntington disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 06-06-12; Last updated: 10-04-25; Version: 22
//
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=27346012; DOI=10.1016/j.scr.2016.02.021;
RA   Dumevska B., Chami O., McKernan R., Goel D., Schmidt U.;
RT   "Derivation of Huntington disease affected Genea046 human embryonic
RT   stem cell line.";
RL   Stem Cell Res. 16:446-448(2016).
//