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Cellosaurus GM02596 (CVCL_X269)

[Text version]
Cell line name GM02596
Synonyms GM 2596; TRI8 fibroblast
Accession CVCL_X269
Resource Identification Initiative To cite this cell line use: GM02596 (RRID:CVCL_X269)
Comments Population: African American.
Karyotypic information: 47,XX,+8 [29]; 46,XX [21]; mosaic (Coriell=GM02596).
Omics: Transcriptomics; RNAseq; Single cell.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Disease Trisomy 8 (NCIt: C36396)
Total autosomal trisomy (ORDO: Orphanet_98131)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_UG55 (TRI8-iPS-C12)CVCL_A9E8 (TRI8-iPS-C8)
Sex of cell Female
Age at sampling 10M
Category Finite cell line
STR profile Source(s): PubMed=21949351

Markers:
AmelogeninX
CSF1PO8,10
D3S135814,16
D5S81811,12
D7S8208,10
D8S117912,15
D13S3178,12
D16S53910,12
D18S5117,18
D21S1125.2
FGA23,24
Penta D11,12
Penta E8,9
TH017,9.3
TPOX8
vWA16,18

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Publications

PubMed=6661932; DOI=10.1159/000131990
Margaret M. Aronson, Warren W. Nichols, Richard A. Mulivor, Arthur E. Greene, Lewis Lemon Coriell;
Chromosome maps of cell lines with specific monosomic or trisomic portions of the genome in the NIGMS Human Genetic Mutant Cell Repository.
Cytogenet. Cell Genet. 36:652-658(1983)

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=21949351; DOI=10.1093/hmg/ddr435
Wen Li, Xian-Ming Wang, Wen-Xia Fan, Ping Zhao, Yau-Chi Chan, Shen Chen, Shi-Qiang Zhang, Xiang-Peng Guo, Ya Zhang, Yan-Hua Li, Jing-Lei Cai ...Show all 29 authors... , Da-Jiang Qin, Xing-Yan Li, Jia-Yin Yang, Tian-Ran Peng, Daniela Zychlinski, Dirk Hoffmann, Ruo-Si Zhang, Kang Deng, Kwong-Man Ng, Bjorn Menten, Mei Zhong, Jia-Yan Wu, Zhi-Yuan Li, Yong-Long Chen, Axel Schambach, Hung-Fat Tse, Duan-Qing Pei, Miguel Angel Esteban; Show fewer authors
Modeling abnormal early development with induced pluripotent stem cells from aneuploid syndromes.
Hum. Mol. Genet. 21:32-45(2012)

PubMed=28190458; DOI=10.1016/j.ajhg.2017.01.028; PMCID=PMC5339288
Federico Andrea Santoni, Georgios Stamoulis, Marco Garieri, Emilie Falconnet, Pascale Ribaux, Christelle Borel, Stylianos E. Antonarakis;
Detection of imprinted genes by single-cell allele-specific gene expression.
Am. J. Hum. Genet. 100:444-453(2017)

PubMed=30510006; DOI=10.1073/pnas.1806811115; PMCID=PMC6304968
Marco Garieri, Georgios Stamoulis, Xavier Blanc, Emilie Falconnet, Pascale Ribaux, Christelle Borel, Federico Andrea Santoni, Stylianos E. Antonarakis;
Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts.
Proc. Natl. Acad. Sci. U.S.A. 115:13015-13020(2018)

PubMed=31582743; DOI=10.1038/s41467-019-12273-8; PMCID=PMC6776538
Georgios Stamoulis, Marco Garieri, Periklis Makrythanasis, Audrey Letourneau, Michel Guipponi, Nikolaos I. Panousis, Frederique Sloan-Bena, Emilie Falconnet, Pascale Ribaux, Christelle Borel, Federico Andrea Santoni, Stylianos E. Antonarakis;
Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance.
Nat. Commun. 10:4495.1-4495.11(2019)

Cross-references
Cell line collections (Providers) Coriell; GM02596
Cell line databases/resources CLO; CLO_0033384
Encyclopedic resources Wikidata; Q54837567
Gene expression databases GEO; GSE123028
Entry history
Entry creation17-Jul-2014
Last entry update10-Apr-2025
Version number14