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Cellosaurus GENEA046-HD (CVCL_9055)

[Text version]
Cell line name GENEA046-HD
Synonyms GENEA046; Genea046; SIVF046; SIVF046-HD
Accession CVCL_9055
Resource Identification Initiative To cite this cell line use: GENEA046-HD (RRID:CVCL_9055)
Comments From: Genea Biocells, Ltd; Sydney; Australia.
Registration: NIH Human Embryonic Stem Cell Registry; NIHhESC-12-0180.
Registration: UK Stem Cell Bank (UKSCB); Steering comm. appl. SCSC14-46.
Omics: Proteomics.
Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
Cell type: Embryonic stem cell; CL=CL_0002322.
Sequence variations
  • Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion; p.Gln18[45] (c.52CAG(45)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Unspecified (Genea).
Disease Huntington's disease (NCIt: C82342)
Huntington disease (ORDO: Orphanet_399)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling Blastocyst stage
Category Embryonic stem cell
STR profile Source(s): PubMed=27346012

Markers:
AmelogeninX
CSF1PO10,11
D2S133818,24
D3S135815,18
D5S81811,12
D7S8207,11
D8S117910,14
D13S3179,10
D16S53911,12
D18S5114,18
D19S43313.2,14
D21S1129,30
FGA20,25
TH017,9.3
TPOX8,11
vWA14,17

Run an STR similarity search on this cell line
Web pages Provider; Genea; -; https://web.archive.org/web/20180912205435/http://geneabiocells.com/services/shelf-products/human-embryonic-stem-cells/
Publications

PubMed=20649476; DOI=10.1089/scd.2010.0120
Bradley C.K., Scott H.A., Chami O., Peura T.T., Dumevska B., Schmidt U., Stojanov T.
Derivation of Huntington's disease-affected human embryonic stem cell lines.
Stem Cells Dev. 20:495-502(2011)

PubMed=25316320; DOI=10.1021/pr500649m
McQuade L.R., Balachandran A., Scott H.A., Khaira S., Baker M.S., Schmidt U.
Proteomics of Huntington's disease-affected human embryonic stem cells reveals an evolving pathology involving mitochondrial dysfunction and metabolic disturbances.
J. Proteome Res. 13:5648-5659(2014)

PubMed=27346012; DOI=10.1016/j.scr.2016.02.021
Dumevska B., Chami O., McKernan R., Goel D., Schmidt U.
Derivation of Huntington disease affected Genea046 human embryonic stem cell line.
Stem Cell Res. 16:446-448(2016)

Cross-references
Cell line databases/resources NIHhESC; NIHhESC-12-0180
Encyclopedic resources Wikidata; Q54835613
Entry history
Entry creation06-Jun-2012
Last entry update10-Apr-2025
Version number22