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Cellosaurus GENEA017-HD (CVCL_9026)

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Cell line name GENEA017-HD
Synonyms GENEA017; Genea017; SIVF017; SIVF017-HD; SIV017
Accession CVCL_9026
Resource Identification Initiative To cite this cell line use: GENEA017-HD (RRID:CVCL_9026)
Comments From: Genea Biocells, Ltd; Sydney; Australia.
Registration: NIH Human Embryonic Stem Cell Registry; NIHhESC-12-0166.
Registration: UK Stem Cell Bank (UKSCB); Steering comm. appl. SCSC14-44.
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[40] (c.52CAG(40)) (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 Male
Age at sampling Blastocyst stage
Category Embryonic stem cell
STR profile Source(s): PubMed=27346022

Markers:
AmelogeninX,Y
CSF1PO12
D2S133817,18
D3S135814,18
D5S81812,13
D7S82010,12
D8S117913,15
D13S3178,14
D16S53911,12
D18S5115,18
D19S43314,15
D21S1129
FGA21,23
TH019
TPOX8,11
vWA15,18

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=27346022; DOI=10.1016/j.scr.2016.02.007
Biljana Dumevska, Robert McKernan, Divya Goel, Uli Schmidt, Teija Tuulikki Peura;
Derivation of Huntington disease affected Genea017 human embryonic stem cell line.
Stem Cell Res. 16:493-496(2016)

Cross-references
Cell line databases/resources NIHhESC; NIHhESC-12-0166
Encyclopedic resources Wikidata; Q54835579
Entry history
Entry creation06-Jun-2012
Last entry update10-Apr-2025
Version number22