ID   AG13074
AC   CVCL_X801
DR   CLO; CLO_0022155
DR   Coriell; AG13074
DR   GEO; GSE123028
DR   Wikidata; Q54744636
RX   CelloPub=CLPUB00597;
RX   PubMed=28190458;
RX   PubMed=30510006;
RX   PubMed=31582743;
CC   Population: Caucasian.
CC   Karyotypic information: 46,XX [30%]; 47,XX,+18 [70%]; mosaic (Coriell=AG13074).
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.
DI   NCIt; C36626; Trisomy 18
DI   ORDO; Orphanet_3380; Trisomy 18
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   19FW
CA   Finite cell line
DT   Created: 05-09-14; Last updated: 29-06-23; Version: 9
//
RX   CelloPub=CLPUB00597;
RG   National Institute on Aging;
RT   "1994 catalog of cell lines. NIA Aging Cell Repository.";
RL   (In) Institute for Medical Research (Camden, N.J.); pp.1-351; National Institutes of Health; Bethesda (1994).
//
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., 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).
//