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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: Transcriptome analysis by single cell RNAseq.
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

Run an STR similarity search on this cell line
Publications

PubMed=6661932; DOI=10.1159/000131990
Aronson M.M., Nichols W.W., Mulivor R.A., Greene A.E., Coriell L.L.
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
Mulivor R.A., Suchy S.F.
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
Li W., Wang X.-M., Fan W.-X., Zhao P., Chan Y.-C., Chen S., Zhang S.-Q., Guo X.-P., Zhang Y., Li Y.-H., Cai J.-L., Qin D.-J., Li X.-Y., Yang J.-Y., Peng T.-R., Zychlinski D., Hoffmann D., Zhang R.-S., Deng K., Ng K.-M., Menten B., Zhong M., Wu J.-Y., Li Z.-Y., Chen Y.-L., Schambach A., Tse H.-F., Pei D.-Q., Esteban M.A.
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
Santoni F.A., Stamoulis G., Garieri M., Falconnet E., Ribaux P., Borel C., Antonarakis S.E.
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
Garieri M., Stamoulis G., Blanc X., Falconnet E., Ribaux P., Borel C., Santoni F.A., Antonarakis S.E.
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
Stamoulis G., Garieri M., Makrythanasis P., Letourneau A., Guipponi M., Panousis N.I., Sloan-Bena F., Falconnet E., Ribaux P., Borel C., Santoni F.A., Antonarakis S.E.
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 update29-Jun-2023
Version number13