ID   GENEA091
AC   CVCL_M242
SY   Genea091; GENEAe019-A
DR   BioSamples; SAMEA104130930
DR   hPSCreg; GENEAe019-A
DR   ISCR; 2049
DR   NIHhESC; NIHhESC-14-0246
DR   Wikidata; Q54835663
RX   PubMed=25316320;
RX   PubMed=27346013;
WW   https://web.archive.org/web/20180912205435/http://geneabiocells.com/services/shelf-products/human-embryonic-stem-cells/
CC   From: Genea Biocells, Ltd; Sydney; Australia.
CC   Registration: NIH Human Embryonic Stem Cell Registry; NIHhESC-14-0246.
CC   Registration: UK Stem Cell Bank (UKSCB); Steering comm. appl. SCSC14-49.
CC   Sequence variation: Mutation; HGNC; 4851; HTT; Repeat_expansion; p.Gln18[40] (c.52CAG(40)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Unspecified (Genea).
CC   Donor information: Embryo is sibling to those giving rise to GENEA089 (Cellosaurus=CVCL_M240) and GENEA090 (Cellosaurus=CVCL_M241).
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
ST   Source(s): PubMed=27346013
ST   Amelogenin: X
ST   CSF1PO: 12,14
ST   D13S317: 9,11
ST   D16S539: 11,12
ST   D18S51: 14
ST   D19S433: 12,13
ST   D21S11: 29,31
ST   D2S1338: 17
ST   D3S1358: 17
ST   D5S818: 10,12
ST   D7S820: 10,11
ST   D8S1179: 13,15
ST   FGA: 22,23
ST   TH01: 6
ST   TPOX: 9,11
ST   vWA: 18,19
DI   NCIt; C82342; Huntington's disease
DI   ORDO; Orphanet_399; Huntington disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 05-11-13; Last updated: 29-06-23; Version: 18
//
RX   PubMed=25316320; DOI=10.1021/pr500649m;
RA   McQuade L.R., Balachandran A., Scott H.A., Khaira S., Baker M.S.,
RA   Schmidt U.;
RT   "Proteomics of Huntington's disease-affected human embryonic stem
RT   cells reveals an evolving pathology involving mitochondrial
RT   dysfunction and metabolic disturbances.";
RL   J. Proteome Res. 13:5648-5659(2014).
//
RX   PubMed=27346013; DOI=10.1016/j.scr.2016.02.022;
RA   Dumevska B., Schaft J., McKernan R., Hu J., Schmidt U.;
RT   "Derivation of Huntington disease affected Genea091 human embryonic
RT   stem cell line.";
RL   Stem Cell Res. 16:449-451(2016).
//