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Cellosaurus GENEA018-HD (CVCL_9027)

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Cell line name GENEA018-HD
Synonyms GENEA018; Genea018; GENEA-018; SIVF018; SIVF018-HD; SIV018
Accession CVCL_9027
Resource Identification Initiative To cite this cell line use: GENEA018-HD (RRID:CVCL_9027)
Comments From: Genea Biocells, Ltd; Sydney; Australia.
Registration: NIH Human Embryonic Stem Cell Registry; NIHhESC-12-0169.
Registration: UK Stem Cell Bank (UKSCB); Steering comm. appl. SCSC14-45.
Omics: Variations; Array-based CGH.
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[46] (c.52CAG(46)) (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=27346005

Markers:
AmelogeninX
CSF1PO11,12
D2S133817,25
D3S135816,17
D5S81812,13
D7S82010,12
D8S117911,14
D13S31713
D16S53911,13
D18S5114,17
D19S43313,15.2
D21S1129
FGA24,25
TH016,9.3
TPOX8,11
vWA17,18

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
Cara K. Bradley, Heather A. Scott, Omar Chami, Teija Tuulikki Peura, Biljana Dumevska, Uli Schmidt, Tomas Stojanov;
Derivation of Huntington's disease-affected human embryonic stem cell lines.
Stem Cells Dev. 20:495-502(2011)

PubMed=25316320; DOI=10.1021/pr500649m
Leon R. McQuade, Anushree Balachandran, Heather A. Scott, Simer Khaira, Mark Scott Baker, Uli Schmidt;
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=27346005; DOI=10.1016/j.scr.2016.02.006
Biljana Dumevska, Heather Main, Robert McKernan, Divya Goel, Uli Schmidt, Teija Tuulikki Peura;
Derivation of Huntington disease affected Genea018 human embryonic stem cell line.
Stem Cell Res. 16:423-426(2016)

PubMed=35805069; DOI=10.3390/cells11131984; PMCID=PMC9265327
Francisco Jose Molina-Ruiz, Clelia Introna, Georgina Bombau, Mireia Galofre, Josep Maria Canals;
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 NIHhESC; NIHhESC-12-0169
Encyclopedic resources Wikidata; Q54835580
Entry history
Entry creation06-Jun-2012
Last entry update10-Apr-2025
Version number23