Classical and molecular cytogenetic methods in diagnosis of a rare translocation t(3;21).

Schmitt, Holger; Sąsiadek, Maria M.; Jagielski, J; Blin, Nikolaus

doi:10.3892/ijmm.1.3.569

Cited by 2 publications

(1 citation statement)

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“…In addition, the fraction of clones in the pTARBAC vector (segment 5 only) may provide a means to reisolate the same genomic segments from other human haplotypes and possibly from other primates through transformationassociated recombination cloning in yeast (Zeng et al 2001). The abundant use of the same BAC library for many data sets has ensured that this clone collection will not only serve as a transient tool for the sequencing of the human genome, but will continue its use as a reference set of well-characterized clones for functional research in cell-based expression studies, for creating phenotypes in mice through human BAC transgenes (Antoch et al 1997;Yang et al 1997Yang et al , 1999Probst et al 1998) and for use in diagnostic applications (Schmitt et al 1998;Marinescu et al 1999;Orsetti et al 1999). Precise sequence information was available for 18,688 RPCI-11 BAC clones on July 8, 2000, which represent nearly 80% of the human genome and were used for shotgun sequencing projects.…”

Section: Discussionmentioning

confidence: 99%

A Bacterial Artificial Chromosome Library for Sequencing the Complete Human Genome

Osoegawa¹,

Mammoser²,

Wu³

et al. 2001

Genome Res.

290

233

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A 30-fold redundant human bacterial artificial chromosome (BAC) library with a large average insert size (178 kb) has been constructed to provide the intermediate substrate for the international genome sequencing effort. The DNA was obtained from a single anonymous volunteer, whose identity was protected through a double-blind donor selection protocol. DNA fragments were generated by partial digestion with EcoRI (library segments 1–4: 24-fold) and MboI (segment 5: sixfold) and cloned into the pBACe3.6 and pTARBAC1 vectors, respectively. The quality of the library was assessed by extensive analysis of 169 clones for rearrangements and artifacts. Eighteen BACs (11%) revealed minor insert rearrangements, and none was chimeric. This BAC library, designated as “RPCI-11,” has been used widely as the central resource for insert-end sequencing, clone fingerprinting, high-throughput sequence analysis and as a source of mapped clones for diagnostic and functional studies.The sequence data described in this paper have been submitted to the GenBank data library under accession nos. AQ936150–AQ936491.]

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Section: Discussionmentioning

confidence: 99%

A Bacterial Artificial Chromosome Library for Sequencing the Complete Human Genome

Osoegawa¹,

Mammoser²,

Wu³

et al. 2001

Genome Res.

290

233

View full text Add to dashboard Cite

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Derivation of induced pluripotent stem cells from ferret somatic cells

Gao

Petraki

Sun

et al. 2020

American Journal of Physiology-Lung Cellular and Molecular Phys

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Ferrets are an attractive mammalian model for several diseases, especially those affecting the lungs, liver, brain, and kidneys. Many chronic human diseases have been difficult to model in rodents due to differences in size and cellular anatomy. This is particularly the case for the lung, where ferrets provide an attractive mammalian model of both acute and chronic lung diseases, such as influenza, cystic fibrosis, A1A emphysema, and obliterative bronchiolitis, closely recapitulating disease pathogenesis, as it occurs in humans. As such, ferrets have the potential to be a valuable preclinical model for the evaluation of cell-based therapies for lung regeneration and, likely, for other tissues. Induced pluripotent stem cells (iPSCs) provide a great option for provision of enough autologous cells to make patient-specific cell therapies a reality. Unfortunately, they have not been successfully created from ferrets. In this study, we demonstrate the generation of ferret iPSCs that reflect the primed pluripotent state of human iPSCs. Ferret fetal fibroblasts were reprogrammed and acquired core features of pluripotency, having the capacity for self-renewal, multilineage differentiation, and a high-level expression of the core pluripotency genes and pathways at both the transcriptional and protein level. In conclusion, we have generated ferret pluripotent stem cells that provide an opportunity for advancing our capacity to evaluate autologous cell engraftment in ferrets.

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Classical and molecular cytogenetic methods in diagnosis of a rare translocation t(3;21).

Cited by 2 publications

References 0 publications

A Bacterial Artificial Chromosome Library for Sequencing the Complete Human Genome

A Bacterial Artificial Chromosome Library for Sequencing the Complete Human Genome

Derivation of induced pluripotent stem cells from ferret somatic cells

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