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Molecular Cytogenetic Core

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Bronx, New York, US

About Molecular Cytogenetic Core

The Molecular Cytogenetic Core (MC) at the Albert Einstein College of Medicine provides tools for the preparation of human and murine samples suitable for molecular genetic and cytogenetic analysis of the entire genome. These tools include the establishment of EBV transformed cell lines; isolation of DNA and... Show more »

The Molecular Cytogenetic Core (MC) at the Albert Einstein College of Medicine provides tools for the preparation of human and murine samples suitable for molecular genetic and cytogenetic analysis of the entire genome. These tools include the establishment of EBV transformed cell lines; isolation of DNA and mRNA from a variety of tissue culture samples as well as primary biopsies; preparation of metaphase chromosomes suitable for fluorescence in situ hybridization (FISH) and Spectral Karyotyping (SKY) or whole chromosome paints for human and mouse genome. The core personnel is trained to hybridize commercial probes and to designed locus specific probes for regions of interest to investigators. All the probes are custom designed and in house generated.

Selected Publications

  • Barzilai N, Atzmon G, Derby CA, Bauman JM, Lipton RB: A genotype of exceptional longevity is associated with preservation of cognitive function. Neurology 2006, 67(12):2170-2175.
  • Jubinsky PT, Shanske AL, Pixley FJ, Montagna C, Short MK: A syndrome of holoprosencephaly, recurrent infections, and monocytosis. Am J Med Genet A 2006, 140(24):2742-2748.
  • Babcock M, Yatsenko S, Hopkins J, Brenton M, Cao Q, de Jong P, Stankiewicz P, Lupski JR, Sikela JM, Morrow BE: Hominoid lineage specific amplification of low-copy repeats on 22q11.2 (LCR22s) associated with velo-cardio-facial/digeorge syndrome. Hum Mol Genet 2007, 16(21):2560-2571.
  • Babcock M, Yatsenko S, Stankiewicz P, Lupski JR, Morrow BE: AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12. Genome Res 2007, 17(4):451-460.
  • Samanich J, Lowes C, Burk R, Shanske S, Lu J, Shanske A, Morrow BE: Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment. Am J Med Genet A 2007, 143A(8):830-838.
  • Weaver BA, Silk AD, Montagna C, Verdier-Pinard P, Cleveland DW: Aneuploidy acts both oncogenically and as a tumor suppressor. Cancer Cell 2007, 11(1):25-36.
  • Atzmon G, Pollin TI, Crandall J, Tanner K, Schechter CB, Scherer PE, Rincon M, Siegel G, Katz M, Lipton RB et al: Adiponectin levels and genotype: a potential regulator of life span in humans. J Gerontol A Biol Sci Med Sci 2008, 63(5):447-453.
  • Battini L, Macip S, Fedorova E, Dikman S, Somlo S, Montagna C, Gusella GL: Loss of polycystin-1 causes centrosome amplification and genomic instability. Hum Mol Genet 2008, 17(18):2819-2833.
  • Faggioli F, Sacco MG, Susani L, Montagna C, Vezzoni P: Cell fusion is a physiological process in mouse liver. Hepatology 2008, 48(5):1655-1664.
  • Jhawer M, Goel S, Wilson AJ, Montagna C, Ling YH, Byun DS, Nasser S, Arango D, Shin J, Klampfer L et al: PIK3CA mutation/PTEN expression status predicts response of colon cancer cells to the epidermal growth factor receptor inhibitor cetuximab. Cancer Res 2008, 68(6):1953-1961.
  • Roohi J, Cammer M, Montagna C, Hatchwell E: An improved method for generating BAC DNA suitable for FISH. Cytogenet Genome Res 2008, 121(1):7-9.
  • Triplett AA, Montagna C, Wagner KU: A mammary-specific, long-range deletion on mouse chromosome 11 accelerates Brca1-associated mammary tumorigenesis. Neoplasia 2008, 10(12):1325-1334.
  • Roohi J, Montagna C, Tegay DH, Palmer LE, DeVincent C, Pomeroy JC, Christian SL, Nowak N, Hatchwell E: Disruption of contactin 4 in three subjects with autism spectrum disorder. J Med Genet 2009, 46(3):176-182.
  • Yuan Z, Shin J, Wilson A, Goel S, Ling YH, Ahmed N, Dopeso H, Jhawer M, Nasser S, Montagna C et al: An A13 repeat within the 3'-untranslated region of epidermal growth factor receptor (EGFR) is frequently mutated in microsatellite instability colon cancers and is associated with increased EGFR expression. Cancer Res 2009, 69(19):7811-7818.
  • Shan J, Chobot-Rodd J, Castellanos R, Babcock M, Shanske A, Parikh SR, Morrow BE, Samanich J: GJB2 mutation spectrum in 209 hearing impaired individuals of predominantly Caribbean Hispanic and African descent. Int J Pediatr Otorhinolaryngol 2010, 74(6):611-618.
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Our Services (24)


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PBMC Isolation

Peripheral Blood Mononuclear Cell Isolation
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Density gradient centrifugation is used for PBMC isolation. The cell recovery viability is routinely 92%. PBMCs are stored in liquid nitrogen and serum will be kept at -80°C.

Density gradient centrifugation is used for PBMC isolation. The cell recovery viability is routinely 92%. PBMCs are stored in liquid nitrogen and serum will be kept at -80°C.

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Whole Genome Amplification

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Whole genome amplification (WGA) uses DNA polymerase and random primers to amplify the entire genome. It can generate a large amount of DNA directly from a small sample. The core is using the REPLI-g whole genome amplification kit (Qiagen) for large scale and GenomiPhi DNA amplification Kit for small scale WGA.

Whole genome amplification (WGA) uses DNA polymerase and random primers to amplify the entire genome. It can generate a large amount of DNA directly from a small sample. The core is using the REPLI-g whole genome amplification kit (Qiagen) for large scale and GenomiPhi DNA amplification Kit for small scale WGA.

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RNA Extraction and Purification

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Qiagen RNeasy Mini Kit is used in the core for RNA isolation from whole blood, cell lines and tissues. We guarantee RNA samples of good quality and free of genomic DNA contamination or RNA degradation.

Qiagen RNeasy Mini Kit is used in the core for RNA isolation from whole blood, cell lines and tissues. We guarantee RNA samples of good quality and free of genomic DNA contamination or RNA degradation.

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DNA Extraction

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The core is using Puregene Genomic DNA purification kit, Autogene 610L and traditional Phenol-Chloroform extraction methods to isolate DNA from whole blood, buffy coats, saliva, cell lines, buccal cells, tissues and serum. The 260/280 ratio is routinely of high quality of >1.7.

The core is using Puregene Genomic DNA purification kit, Autogene 610L and traditional Phenol-Chloroform extraction methods to isolate DNA from whole blood, buffy coats, saliva, cell lines, buccal cells, tissues and serum. The 260/280 ratio is routinely of high quality of >1.7.

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Stable Cell Line Generation

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Epstein Barr Virus (EBV)-transformed human B-lymphoblastoid cell lines.

EBV infection in vitro causes transformation of B cells and generates B lymphoblastoid, permanent cell lines (LCLs). LCLs have been widely used for diagnosis of metabolic disorders. LCLs also have been used as models in various biological and medical... Show more »

Epstein Barr Virus (EBV)-transformed human B-lymphoblastoid cell lines.

EBV infection in vitro causes transformation of B cells and generates B lymphoblastoid, permanent cell lines (LCLs). LCLs have been widely used for diagnosis of metabolic disorders. LCLs also have been used as models in various biological and medical studies as they can be easily established and continue proliferating for many generations to provide unlimited DNA/RNA. LCLs will be stored in liquid nitrogen. Our success rate is 90%.

Generation of hamster-human somatic cell hybrid cell lines

Somatic cell hybrids are formed by fusion of cells. Usually the fusion is achieved by polyethylene glycol (PEG) or a virus. After fusion, the new cell has temporarily a double chromosome complement that is gradually reduced by random expulsion of either hamster or human chromosomes. The remaining cells can be tested for the presence of a variety of gene products. The presence, or deficiency, of these products can be associated with the presence, or absence, of a particular chromosome, thus localizing function to site.

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Spectral Karyotyping

Price on request

The MC is equipped to perform human and mouse SKY. SKY is a powerful 24-color, whole-chromosome genome wide painting assay that can detect chromosomal material of unknown origin, complex rearrangements, translocations, large deletions, duplications and aneuploidy.

The MC is equipped to perform human and mouse SKY. SKY is a powerful 24-color, whole-chromosome genome wide painting assay that can detect chromosomal material of unknown origin, complex rearrangements, translocations, large deletions, duplications and aneuploidy.

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Chromosome Painting Probes

Price on request

The MC offers services for both locus specific probes (BAC clones, plasmids > 5Kb) as well as chromosome painting probes (both human and mouse). We offer the possibility of selecting and ordering BAC clones for any genomic region based on the latest build of the genome. Probes can be generated in up to four colors (Spectrum... Show more »

The MC offers services for both locus specific probes (BAC clones, plasmids > 5Kb) as well as chromosome painting probes (both human and mouse). We offer the possibility of selecting and ordering BAC clones for any genomic region based on the latest build of the genome. Probes can be generated in up to four colors (Spectrum Orange, Spectrum Aqua, Biotin- Cy5, Digoxigenin –Alexa 488 or Spectrum Green.

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Karyotyping

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  • Metaphase preparation. We offer routine preparation of metaphase chromosomes by standard colcemid arrest and hypotonic treatment from human and mouse cell lines, peripheral blood and mouse spleen. High resolution chromosomes obtained by thymidine incorporation are also available.
  • Standard karyotyping and chromosome counts.... Show more »
  • Metaphase preparation. We offer routine preparation of metaphase chromosomes by standard colcemid arrest and hypotonic treatment from human and mouse cell lines, peripheral blood and mouse spleen. High resolution chromosomes obtained by thymidine incorporation are also available.
  • Standard karyotyping and chromosome counts. Chromosome counts for aneuploidy studies as well as full karyotyping based on inverted DAPI is provided for human and mouse.
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Sequencing data in FASTQ

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Clinical Laboratory Services

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Clinical Research

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Biochemistry & Molecular Biology

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RNA Services

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DNA Extraction and Purification

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Cell and Tissue Culture

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Chromosome Analysis

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Biospecimens

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DNA Services

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Cells and Tissues

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DNA Amplification

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Human Biospecimens

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Nucleic Acid Services

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Human Whole Blood & PBMCs

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Clinical Molecular Diagnostics

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