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Cellosaurus Twin-DS (CVCL_B4L1)

[Text version]
Cell line name Twin-DS
Synonyms T1DS
Accession CVCL_B4L1
Resource Identification Initiative To cite this cell line use: Twin-DS (RRID:CVCL_B4L1)
Comments From: University of Geneva; Geneva; Switzerland.
Population: Caucasian.
Omics: H3K4me3 ChIP-seq epigenome analysis.
Omics: Deep proteome analysis.
Omics: Transcriptome analysis by microarray.
Omics: Transcriptome analysis by RNAseq.
Omics: Transcriptome analysis by single cell RNAseq.
Donor information: Twin-DS and Twin-N (Cellosaurus=CVCL_B4L2) originate from monozygotic twins discordant for trisomy 21.
Derived from site: In situ; Forearm, skin; UBERON=UBERON_0003399.
Cell type: Fibroblast of skin; CL=CL_0002620.
Disease Down syndrome (NCIt: C2993)
Down syndrome (ORDO: Orphanet_870)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_W088 (Twin-DS-iPSC)
Sex of cell Female
Age at sampling 16FW
Category Finite cell line
Publications

PubMed=24375627; DOI=10.1002/emmm.201302848
Hibaoui Y., Grad I., Letourneau A., Sailani M.R., Dahoun S., Santoni F.A., Gimelli S., Guipponi M., Pelte M.-F., Sloan-Bena F., Antonarakis S.E., Feki A.
Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21.
EMBO Mol. Med. 6:259-277(2014)

PubMed=24740065; DOI=10.1038/nature13200
Letourneau A., Santoni F.A., Bonilla X., Sailani M.R., Gonzalez D., Kind J., Chevalier C., Thurman R., Sandstrom R.S., Hibaoui Y., Garieri M., Popadin K.Y., Falconnet E., Gagnebin M., Gehrig C., Vannier A., Guipponi M., Farinelli L., Robyr D., Migliavacca E., Borel C., Deutsch S., Feki A., Stamatoyannopoulos J.A., Herault Y., van Steensel B., Guigo R., Antonarakis S.E.
Domains of genome-wide gene expression dysregulation in Down's syndrome.
Nature 508:345-350(2014)

PubMed=28190458; DOI=10.1016/j.ajhg.2017.01.028
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
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)

Cross-references
Encyclopedic resources Wikidata; Q110433293
Gene expression databases GEO; GSE123028
GEO; GSE135500
GEO; GSM1338307
GEO; GSM1338308
GEO; GSM1338343
GEO; GSM1338341
GEO; GSM1338311
GEO; GSM1338313
GEO; GSM1338315
GEO; GSM1338317
GEO; GSM1333659
GEO; GSM1333661
Proteomic databases PRIDE; PXD004880
Entry history
Entry creation16-Dec-2021
Last entry update29-Jun-2023
Version number5