NA01750
DNA from Fibroblast
Description:
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
dbGaP |
| Quantity |
50 µg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis after cell line submission to CCR
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ISCN
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47,XY,+der(14)t(9;14)(p21;q12)mat.arr 9p24.3p21.3(206123-24496137)x3,14q11.2q12(19502640-29729826)x3
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| CARDIAC ALPHA- & BETA-MYOSIN HEAVY CHAINS |
Matsuoka et al (Am J Med Genet 32:279-284,1989) performed gene dosage analysis on the DNA from this cell culture using human cardiac alphaand beta-myosin heavy chain probes (MYH6 & MYH7). Densitometric scanning revealed a signal intensity of 150% for this culture when compared with control DNA. The results indicated that human cardiac myosin heavy chain genes segregated with the 14cen>q13 region of the long arm of chromosome 14. |
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| CARDIAC ALPHA- & BETA-MYOSIN HEAVY CHAINS |
Matsuoka et al (Am J Med Genet 32:279-284,1989) performed gene dosage analysis on the DNA from this cell culture using human cardiac alphaand beta-myosin heavy chain probes (MYH6 & MYH7). Densitometric scanning revealed a signal intensity of 150% for this culture when compared with control DNA. The results indicated that human cardiac myosin heavy chain genes segregated with the 14cen>q13 region of the long arm of chromosome 14. |
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| Cytogenetics |
Chromosome 14: DERIVATIVE CHROMOSOME Aneuploid Segment (+)14pter>14q21 |
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Chromosome 14: DERIVATIVE CHROMOSOME Trisomic Segment 14pter>14q21 |
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Chromosome 9: DERIVATIVE CHROMOSOME Aneuploid Segment (+)9pter>9p24 |
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Chromosome 9: DERIVATIVE CHROMOSOME Trisomic Segment 9pter>9p24 |
| Remarks |
Three first cousins have the same partial trisomy 14; growth retardation, facial dysplasia, and developmental delay; MYH6 and MYH7 gene probes reveal 3 copies of cardiac alpha- and beta-myosin heavy chain genes |
| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
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| Pinkel D, Albertson DG, Comparative genomic hybridization. Annu Rev Genomics Hum Genet6:331-54 2005 |
| PubMed ID: 16124865 |
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| van den Ijssel P, Tijssen M, Chin SF, Eijk P, Carvalho B, Hopmans E, Holstege H, Bangarusamy DK, Jonkers J, Meijer GA, Caldas C, Ylstra B, Human and mouse oligonucleotide-based array CGH Nucleic acids research33:e192 2005 |
| PubMed ID: 16361265 |
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| Matsuoka R, Yoshida MC, Kanda N, Kimura M, Ozasa H, Takao A, Human cardiac myosin heavy chain gene mapped within chromosome region 14q11.2----q13. Am J Med Genet32:279-84 1989 |
| PubMed ID: 2494889 |
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| Miller JQ, Willson K, Wyandt H, Jaramillo MA, McConnell TS, Familial partial 14 trisomy. J Med Genet16:60-5 1979 |
| PubMed ID: 469889 |
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