Filters
Technology
Platform
SRP040145
Homo sapiens
13 Downloadable Samples
IlluminaHiSeq2000
Description
Induced pluripotent stem cells (iPSCs) offer opportunity for insight into the genetic requirements of the X chromosome for somatic and germline development. Turner syndrome is caused by complete or partial loss of the second sex chromosome; while more than 90% of Turner cases result in spontaneous fetal loss, survivors display an array of somatic and germline clinical characteristics. Here, we derived iPSCs from Turner syndrome and control individuals and examined germ cell development as a function of X chromosome composition. We analyzed gene expression profiles of derived iPSCs and in vitro differentiated cells by single cell qRT-PCR and RNA-seq. We whoed that two X chromosomes are not necessary for reprogramming or pluripotency maintenance. Genes that escape X chromosome inactivation (XCI) between control iPSCs and those with X chromosome aneuploidies revealed minimal expression differences relative to a female hESC line. Moreover, when we induced germ cell differentiation via murine xenotransplantation of iPSC lines into the seminiferous tubules of busulfan-treated mice, we observed that undifferentiated iPSCs, independent of X chromosome composition, when placed within the correct somatic environment, are capable of forming early germ cells in vivo. Results indicate that two intact X chromosomes are not required for germ cell formation; however, clinical data suggest that two sex chromosomes are required for maintenance of human germ cells. Overall design: RNA-seq of H9 cells, iPSCs from Turner syndrome and control individuals and in vitro differentiated cells
Publication Title
Human germ cell formation in xenotransplants of induced pluripotent stem cells carrying X chromosome aneuploidies.
Sample Metadata Fields
No sample metadata fields
View Samples- Macaca mulatta
- 25 Downloadable Samples
Affymetrix Rhesus Macaque Genome Array (rhesus)
Description
Pedigreed primate ESCs display homogeneous and reliable expression profiles.
Publication Title
Pedigreed primate embryonic stem cells express homogeneous familial gene profiles.
Sample Metadata Fields
No sample metadata fields
View Samples- Mus musculus
- 423 Downloadable Samples
- Illumina HiSeq 2500
Description
Spermatogonial stem cells (SSCs) are critical for maintaining spermatogenesis throughout adult life. Little is known about how SSCs are first generated. Here, we report the identification of a transcription factor—RHOX10—that promotes the initial establishment of SSCs. We were led to this discovery because we found that conditional loss of a large X-linked gene cluster comprised of 33 related homeobox genes, including Rhox10, causes defects predicted if SSCs fail to be generated or maintained. Remarkably, KO of only Rhox10 elicits SSC-related defects indistinguishable from KO of the entire gene cluster. Using a battery of approaches, including single cell-RNAseq analysis, we determined that loss of Rhox10 causes accumulation of undifferentiated germ cells—Pro-spermatogonia (ProSG)—at a time when they normally would form SSCs. The identification of a transcription factor that drives the initial generation of SSCs has potential therapeutic applications for infertility. Overall design: Single cell RNA-seq analysis of ID4-positive testicular cells from Wildtype and Rhox10 knockout mice (Postnatal day 3 and 7)
Publication Title
The Homeobox Transcription Factor RHOX10 Drives Mouse Spermatogonial Stem Cell Establishment.
Sample Metadata Fields
Specimen part, Subject
View Samples- Homo sapiens
- 6 Downloadable Samples
- IlluminaHiSeq2000
Description
RNA-seq Identification of a Novel Fusion Gene in a Mesenchymal Tumor
Publication Title
Characterization of FN1-FGFR1 and novel FN1-FGF1 fusion genes in a large series of phosphaturic mesenchymal tumors.
Sample Metadata Fields
No sample metadata fields
View Samples