ID   CM05287
AC   CVCL_B4ZP
DR   GEO; GSE135500
DR   Wikidata; Q110432724
RX   PubMed=25694335;
RX   PubMed=31582743;
CC   Karyotypic information: 60% trisomy 21, 40% normal karyotype (PubMed=25694335).
CC   Omics: Transcriptomics; RNAseq; Single cell.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C2993; Down syndrome
DI   ORDO; Orphanet_870; Down syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
AG   Adult
CA   Finite cell line
DT   Created: 16-12-21; Last updated: 10-04-25; Version: 5
//
RX   PubMed=25694335; DOI=10.1002/stem.1968; PMCID=PMC4737213;
RA   Murray A., Letourneau A., Canzonetta C., Stathaki E., Gimelli S.,
RA   Sloan-Bena F., Abrehart R., Goh P., Lim S., Baldo C.,
RA   Dagna-Bricarelli F., Hannan S., Mortensen M., Ballard D.,
RA   Syndercombe-Court D., Fusaki N., Hasegawa M., Smart T.G., Bishop C.,
RA   Antonarakis S.E., Groet J., Nizetic D.;
RT   "Brief report: isogenic induced pluripotent stem cell lines from an
RT   adult with mosaic Down syndrome model accelerated neuronal ageing and
RT   neurodegeneration.";
RL   Stem Cells 33:2077-2084(2015).
//
RX   PubMed=31582743; DOI=10.1038/s41467-019-12273-8; PMCID=PMC6776538;
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).
//