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Cellosaurus GENEA091 (CVCL_M242)

[Text version]
Cell line name GENEA091
Synonyms Genea091; GENEAe019-A
Accession CVCL_M242
Resource Identification Initiative To cite this cell line use: GENEA091 (RRID:CVCL_M242)
Comments From: Genea Biocells, Ltd; Sydney; Australia.
Registration: NIH Human Embryonic Stem Cell Registry; NIHhESC-14-0246.
Registration: UK Stem Cell Bank (UKSCB); Steering comm. appl. SCSC14-49.
Donor information: Embryo is sibling to those giving rise to GENEA089 (Cellosaurus=CVCL_M240) and GENEA090 (Cellosaurus=CVCL_M241).
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 Female
Age at sampling Blastocyst stage
Category Embryonic stem cell
STR profile Source(s): PubMed=27346013

Markers:
AmelogeninX
CSF1PO12,14
D2S133817
D3S135817
D5S81810,12
D7S82010,11
D8S117913,15
D13S3179,11
D16S53911,12
D18S5114
D19S43312,13
D21S1129,31
FGA22,23
TH016
TPOX9,11
vWA18,19

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/
Publications

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=27346013; DOI=10.1016/j.scr.2016.02.022
Dumevska B., Schaft J., McKernan R., Hu J., Schmidt U.
Derivation of Huntington disease affected Genea091 human embryonic stem cell line.
Stem Cell Res. 16:449-451(2016)

Cross-references
Cell line databases/resources hPSCreg; GENEAe019-A
NIHhESC; NIHhESC-14-0246
Biological sample resources BioSamples; SAMEA104130930
Encyclopedic resources Wikidata; Q54835663
Entry history
Entry creation05-Nov-2013
Last entry update19-Dec-2024
Version number20