ID   GM02596
AC   CVCL_X269
SY   GM 2596; TRI8 fibroblast
DR   CLO; CLO_0033384
DR   Coriell; GM02596
DR   GEO; GSE123028
DR   Wikidata; Q54837567
RX   CelloPub=CLPUB00447;
RX   PubMed=6661932;
RX   PubMed=21949351;
RX   PubMed=28190458;
RX   PubMed=30510006;
RX   PubMed=31582743;
CC   Population: African American.
CC   Karyotypic information: 47,XX,+8 [29]; 46,XX [21]; mosaic (Coriell=GM02596).
CC   Omics: Transcriptome analysis by single cell RNAseq.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): PubMed=21949351
ST   Amelogenin: X
ST   CSF1PO: 8,10
ST   D13S317: 8,12
ST   D16S539: 10,12
ST   D18S51: 17,18
ST   D21S11: 25.2
ST   D3S1358: 14,16
ST   D5S818: 11,12
ST   D7S820: 8,10
ST   D8S1179: 12,15
ST   FGA: 23,24
ST   Penta D: 11,12
ST   Penta E: 8,9
ST   TH01: 7,9.3
ST   TPOX: 8
ST   vWA: 16,18
DI   NCIt; C36396; Trisomy 8
DI   ORDO; Orphanet_98131; Total autosomal trisomy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   10M
CA   Finite cell line
DT   Created: 17-07-14; Last updated: 29-06-23; Version: 13
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   PubMed=6661932; DOI=10.1159/000131990;
RA   Aronson M.M., Nichols W.W., Mulivor R.A., Greene A.E., Coriell L.L.;
RT   "Chromosome maps of cell lines with specific monosomic or trisomic
RT   portions of the genome in the NIGMS Human Genetic Mutant Cell
RT   Repository.";
RL   Cytogenet. Cell Genet. 36:652-658(1983).
//
RX   PubMed=21949351; DOI=10.1093/hmg/ddr435;
RA   Li W., Wang X.-M., Fan W.-X., Zhao P., Chan Y.-C., Chen S.,
RA   Zhang S.-Q., Guo X.-P., Zhang Y., Li Y.-H., Cai J.-L., Qin D.-J.,
RA   Li X.-Y., Yang J.-Y., Peng T.-R., Zychlinski D., Hoffmann D.,
RA   Zhang R.-S., Deng K., Ng K.-M., Menten B., Zhong M., Wu J.-Y., Li Z.-Y.,
RA   Chen Y.-L., Schambach A., Tse H.-F., Pei D.-Q., Esteban M.A.;
RT   "Modeling abnormal early development with induced pluripotent stem
RT   cells from aneuploid syndromes.";
RL   Hum. Mol. Genet. 21:32-45(2012).
//
RX   PubMed=28190458; DOI=10.1016/j.ajhg.2017.01.028;
RA   Santoni F.A., Stamoulis G., Garieri M., Falconnet E., Ribaux P.,
RA   Borel C., Antonarakis S.E.;
RT   "Detection of imprinted genes by single-cell allele-specific gene
RT   expression.";
RL   Am. J. Hum. Genet. 100:444-453(2017).
//
RX   PubMed=30510006; DOI=10.1073/pnas.1806811115;
RA   Garieri M., Stamoulis G., Blanc X., Falconnet E., Ribaux P., Borel C.,
RA   Santoni F.A., Antonarakis S.E.;
RT   "Extensive cellular heterogeneity of X inactivation revealed by
RT   single-cell allele-specific expression in human fibroblasts.";
RL   Proc. Natl. Acad. Sci. U.S.A. 115:13015-13020(2018).
//
RX   PubMed=31582743; DOI=10.1038/s41467-019-12273-8;
RA   Stamoulis G., Garieri M., Makrythanasis P., Letourneau A.,
RA   Guipponi M., Panousis N.I., Sloan-Bena F., Falconnet E., Ribaux P.,
RA   Borel C., Santoni F.A., Antonarakis S.E.;
RT   "Single cell transcriptome in aneuploidies reveals mechanisms of gene
RT   dosage imbalance.";
RL   Nat. Commun. 10:4495.1-4495.11(2019).
//