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Cellosaurus GENEA020 (CVCL_9029)

[Text version]
Cell line name GENEA020
Synonyms GENEA020-HD; Genea020; GENEA-020; SIVF020; SIVF020-HD; SIV020; GENEAe015-A
Accession CVCL_9029
Resource Identification Initiative To cite this cell line use: GENEA020 (RRID:CVCL_9029)
Comments From: Genea Biocells, Ltd; Sydney; Australia.
Registration: NIH Human Embryonic Stem Cell Registry; not approved.
Registration: UK Stem Cell Bank (UKSCB); Steering comm. appl. SCSC14-62.
Omics: Array-based CGH.
Donor information: Embryo is sibling to that giving rise to GENEA019 (Cellosaurus=CVCL_9028).
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[48] (c.52CAG(48)) (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=27346007

Markers:
AmelogeninX
CSF1PO10
D2S133824
D3S135815
D5S81811,12
D7S8208
D8S117912,13
D13S31710,12
D16S53911
D18S5114,15
D19S43313,16.2
D21S1130,33.2
FGA19,20
TH017,9
TPOX8,11
vWA14,17

Run an STR similarity search on this cell line
Web pages https://web.archive.org/web/20180912205435/http://geneabiocells.com/services/shelf-products/human-embryonic-stem-cells/
https://grants.nih.gov/stem_cells/registry/not_approved.htm
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=27346007; DOI=10.1016/j.scr.2016.02.009
Dumevska B., Peura T.T., McKernan R., Goel D., Schmidt U.
Derivation of Huntington disease affected Genea020 human embryonic stem cell line.
Stem Cell Res. 16:430-433(2016)

PubMed=35805069; DOI=10.3390/cells11131984; PMCID=PMC9265327
Molina-Ruiz F.J., Introna C., Bombau G., Galofre M., Canals J.M.
Standardization of cell culture conditions and routine genomic screening under a quality management system leads to reduced genomic instability in hPSCs.
Cells 11:1984.1-1984.25(2022)

Cross-references
Cell line databases/resources hPSCreg; GENEAe015-A
SKIP; SKIP002918
Biological sample resources BioSamples; SAMEA104012534
Encyclopedic resources Wikidata; Q54835582
Entry history
Entry creation06-Jun-2012
Last entry update19-Dec-2024
Version number23